<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Pouchitis and explain in detail? [/INST] Pouchitis is an umbrella term for inflammation of the ileal pouch, an artificial rectum surgically created out of ileum (the last section of the small intestine) in patients who have undergone a proctocolectomy or total colectomy (removal of the colon and rectum). The ileal pouch-anal anastomosis is created in the management of patients with ulcerative colitis, indeterminate colitis, familial adenomatous polyposis, cancer, or rarely, other colitides.A variety of mechanisms can be the cause of pouchitis including inflammatory factors such as a disbiosis sparked inflammation or Crohns disease of the pouch, surgical causes including surgical join leaks and pelvic sepsis, or infectious from Clostridium difficile (C Diff) or Cytomegalovirus (CMV).  It is possible to have more than one factor causing pouch inflammation at the same time.The incidence of a first episode of pouchitis at 1, 5 and 10 years post-operatively is 15%, 33% and 45% respectively.Patients with pouchitis typically present with bloody diarrhea, urgency in passing stools, or discomfort while passing stools.  The loss of blood and/or dehydration resulting from the frequent stools will frequently result in nausea.  Extreme cramping and pain can occur with pouchitis.
Endoscopic evaluation of the pouch (pouchoscopy) in patients with pouchitis usually reveals erythematous pouch mucosa, loss of pseudocolonic vasculature or other architecture, and friability of the mucosa.  Biopsies show evidence of inflammatory cells or red blood cells in the lamina propria.

Signs and symptoms
Symptoms of pouchitis include increased stool frequency, urgency, incontinence, nocturnal seepage, abdominal cramping, pelvic discomfort, and arthralgia.Symptom severity does not always correlate with severity of endoscopically or histologically evaluated pouch inflammation </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Hematocolpos and explain in detail? [/INST] Hematocolpos is a medical condition in which the vagina is pooled with menstrual blood due to multiple factors leading to the blockage of menstrual blood flow. The medical definition of hematocolpos is an accumulation of blood within the vagina. It is often caused by the combination of menstruation with an imperforate hymen. It is sometimes seen in Robinow syndrome, uterus didelphys, or other vaginal anomalies.
A related disorder is hematometra, where the uterus fills with menstrual blood. It presents after puberty as primary amenorrhoea, recurrent pelvic pain with a pelvic mass. This can be caused by a congenital stenosis of the cervix, or by a complication of a surgical treatment.  Mucometrocolpos is the accumulation of mucous secretions behind an imperforate hymen. Mucometrocolpos can sometimes cause abdominal distention.

Symptoms
On and off lower abdominal pain lasting more than a week
Pain with cramping, with episodes of worse pain in between
Vomiting without blood or bile
Abdominal bloating and distention
Constipation and changes in urine output
Tender breasts
Vaginal bleeding or discharge
Severe cyclic pelvic pain
Urinary retention

Causes
There are four possible causes of hematocolpos
Imperforate hymen: An imperforate hymen is a medical condition where the female is born with a hymen that spans the entire diameter of the vagina, with no opening to the outside. An imperforate hymen may be diagnosed at any age. However, when a girl hits puberty, this type of hymen blocks the blood from flowing out and the bloods pools in the vagina. This may cause a sensation of mass or fullness in the lower abdomen, pain in the stomach and back, along with problems with urinating and bowel movements. Chemical exposure of the vaginal epithelia may lead to tissue damage (up to and including necrosis) and swelling (edema). The edematous blockage of the vagina results in identical symptomatology as the imperforate hymen.
Cervical atresia is a relatively rare Mullerian duct anomaly of the female reproductive tract. It is associated with acute or chronic pain in the abdomen or pelvic pain along with other reproductive problems. A significant share of the women with cervical atresia have it since birth, that is, congenital cervical atresia. However, Cervical Atresia is distinct from other Mullerian duct anomalies.
Vaginal atresia: Vaginal atresia is another congenital defect which results in the uterovaginal outflow tract obstruction. it occurs when the caudal portion of the vagina fails to form and is rather replaced with fibrous tissues only. Vaginal atresia has three basic categories of anomalies- vaginal agenesis, ambiguous genitalia, and imperforate anus and urogenital sinus variants. The different features associated with an ambiguous genitalia which might eventually lead to a blockage of menstrual blood flow are:  i) Rugal folds over the labia ii) Mass in an apparent labium iii) Excess clitoral tissue. Due to these anomalies, there are chances that the menstrual blood would not be able to flow out of the vagina, eventually leading to hematocolpos.
Transverse vaginal septum: A transverse vaginal septum is another medical condition whereby an extra horizontal wall of tissue that has formed during embryological development creates a blockage in the vagina. Transverse vaginal septa are relatively rare anomalies, occurring in about 1 in 70,000 girls. The diagnosis can be made at various ages, from neonates presenting with hydrocolpos to young women presenting with primary amenorrhea and pelvic pain due to the development of hematocolpos. Often, women might have a normal hymeneal opening but this wall of tissue might be blocking the access to the vaginal canal. A small opening in the septum called the fenestration allows the menstrual blood to flow out of the vagina </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Keratoconjunctivitis and explain in detail? [/INST]  </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Labour and explain in detail? [/INST]  </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Acute kidney injury and explain in detail? [/INST] Acute kidney injury (AKI), previously called acute renal failure (ARF), is a sudden decrease in kidney function that develops within 7 days, as shown by an increase in serum creatinine or a decrease in urine output, or both.Causes of AKI are classified as either prerenal (due to decreased blood flow to the kidney), intrinsic renal (due to damage to the kidney itself), or postrenal (due to blockage of urine flow). Prerenal causes of AKI include sepsis, dehydration, excessive blood loss, cardiogenic shock, heart failure, cirrhosis, and certain medications like ACE inhibitors or NSAIDs. Intrinsic renal causes of AKI include glomerulonephritis, lupus nephritis, acute tubular necrosis, certain antibiotics, and chemotherapeutic agents. Postrenal causes of AKI include kidney stones, bladder cancer, neurogenic bladder, enlargement of the prostate, narrowing of the urethra, and certain medications like anticholinergics.The diagnosis of AKI is made based on a persons signs and symptoms, along with lab tests for serum creatinine and measurement of urine output. Other tests include urine microscopy and urine electrolytes. Renal ultrasound can be obtained when a postrenal cause is suspected. A kidney biopsy may be obtained when intrinsic renal AKI is suspected and the cause is unclear.AKI is seen in 10-15% of people admitted to the hospital and in more than 50% of people admitted to the intensive care unit (ICU). AKI may lead to a number of complications, including metabolic acidosis, high potassium levels, uremia, changes in body fluid balance, effects on other organ systems, and death. People who have experienced AKI are at increased risk of developing chronic kidney disease in the future. Management includes treatment of the underlying cause and supportive care, such as renal replacement therapy.

Signs and symptoms
The clinical presentation is often dominated by the underlying cause. The various symptoms of acute kidney injury result from the various disturbances of kidney function that are associated with the disease. Accumulation of urea and other nitrogen-containing substances in the bloodstream lead to a number of symptoms, such as fatigue, loss of appetite, headache, nausea, and vomiting. Marked increases in the potassium level can lead to abnormal heart rhythms, which can be severe and life-threatening. Fluid balance is frequently affected, though blood pressure can be high, low, or normal.Pain in the flanks may be encountered in some conditions (such as clotting of the kidneys blood vessels or inflammation of the kidney). This is the result of stretching of the fibrous tissue capsule surrounding the kidney. If the kidney injury is the result of dehydration, there may be thirst as well as evidence of fluid depletion on physical examination. Physical examination may also provide other clues as to the underlying cause of the kidney problem, such as a rash in interstitial nephritis (or vasculitis) and a palpable bladder in obstructive nephropathy.

Causes
Prerenal
Prerenal causes of AKI ("pre-renal azotemia") are those that decrease effective blood flow to the kidney and cause a decrease in the glomerular filtration rate (GFR). Both kidneys need to be affected as one kidney is still more than adequate for normal kidney function. Notable causes of prerenal AKI include low blood volume (e.g., dehydration), low blood pressure, heart failure (leading to cardiorenal syndrome), hepatorenal syndrome in the context of liver cirrhosis, and local changes to the blood vessels supplying the kidney. The latter include renal artery stenosis, or the narrowing of the renal artery which supplies the kidney with blood, and renal vein thrombosis, which is the formation of a blood clot in the renal vein that drains blood from the kidney.

Intrinsic or renal
Intrinsic AKI refers to disease processes which directly damage the kidney itself. Intrinsic AKI can be due to one or more of the kidneys structures including the glomeruli, kidney tubules, or the interstitium. Common causes of each are glomerulonephritis, acute tubular necrosis (ATN), and acute interstitial nephritis (AIN), respectively. Other causes of intrinsic AKI are rhabdomyolysis and tumor lysis syndrome. Certain medication classes such as calcineurin inhibitors (e.g., tacrolimus) can also directly damage the tubular cells of the kidney and result in a form of intrinsic AKI.

Postrenal
Postrenal AKI refers to acute kidney injury caused by disease states downstream of the kidney and most often occurs as a consequence of urinary tract obstruction. This may be related to benign prostatic hyperplasia, kidney stones, obstructed urinary catheter, bladder stones, or cancer of the bladder, ureters, or prostate.

Diagnosis
Definition
Introduced by the KDIGO in 2012, specific criteria exist for the diagnosis of AKI.
AKI can be diagnosed if any one of the following is present:

Increase in SCr by ≥0.3 mg/dl (≥26.5 μmol/L) within 48 hours; or
Increase in SCr to ≥1.5 times baseline, which has occurred within the prior 7 days; or
Urine volume < 0.5 mL/kg/h for 6 hours.

Staging
The RIFLE criteria, proposed by the Acute Dialysis Quality Initiative (ADQI) group, aid in assessment of the severity of a persons acute kidney injury. The acronym RIFLE is used to define the spectrum of progressive kidney injury seen in AKI:

Risk: 1.5-fold increase in the serum creatinine, or glomerular filtration rate (GFR) decrease by 25 percent, or urine output <0.5 mL/kg per hour for six hours.
Injury: Two-fold increase in the serum creatinine, or GFR decrease by 50 percent, or urine output <0.5 mL/kg per hour for 12 hours.
Failure: Three-fold increase in the serum creatinine, or GFR decrease by 75 percent, or urine output of <0.3 mL/kg per hour for 24 hours, or no urine output (anuria) for 12 hours.
Loss: Complete loss of kidney function (e.g., need for renal replacement therapy) for more than four weeks.
End-stage kidney disease: Complete loss of kidney function (e.g., need for renal replacement therapy) for more than three months.

Evaluation
The deterioration of kidney function may be signaled by a measurable decrease in urine output. Often, it is diagnosed on the basis of blood tests for substances normally eliminated by the kidney: urea and creatinine. Additionally, the ratio of BUN to creatinine is used to evaluate kidney injury. Both tests have their disadvantages. For instance, it takes about 24 hours for the creatinine level to rise, even if both kidneys have ceased to function. A number of alternative markers have been proposed (such as NGAL, KIM-1, IL18 and cystatin C), but none of them are established enough as of 2018 to replace creatinine as a marker of kidney function.Once the diagnosis of AKI is made, further testing is often required to determine the underlying cause. It is useful to perform a bladder scan or a post void residual to rule out urinary retention. In post void residual, a catheter is inserted into the urinary tract immediately after urinating to measure fluid still in the bladder. 50–100 mL suggests neurogenic bladder dysfunction.
These may include urine sediment analysis, renal ultrasound and/or kidney biopsy. Indications for kidney biopsy in the setting of AKI include the following:
Unexplained AKI, in a patient with two non-obstructed normal sized kidneys.
AKI in the presence of the nephritic syndrome.
Systemic disease associated with AKI.
Kidney transplant dysfunction.In medical imaging, the acute changes in the kidney are often examined with renal ultrasonography as the first-line modality, where CT scan and magnetic resonance imaging (MRI) are used for the follow-up examinations and when US fails to demonstrate abnormalities. In evaluation of the acute changes in the kidney, the echogenicity of the renal structures, the delineation of the kidney, the renal vascularity, kidney size and focal abnormalities are observed. CT is preferred in renal traumas, but US is used for follow-up, especially in the patients suspected for the formation of urinomas. A CT scan of the abdomen will also demonstrate bladder distension or hydronephrosis.

Classification
Acute kidney injury is diagnosed on the basis of clinical history and laboratory data. A diagnosis is made when there is a rapid reduction in kidney function, as measured by serum creatinine, or based on a rapid reduction in urine output, termed oliguria (less than 400 mLs of urine per 24 hours).

AKI can be caused by systemic disease (such as a manifestation of an autoimmune disease, e.g. lupus nephritis), crush injury, contrast agents, some antibiotics, and more. AKI often occurs due to multiple processes. The most common cause is dehydration and sepsis combined with nephrotoxic drugs, especially following surgery or contrast agents.
The causes of acute kidney injury are commonly categorized into prerenal, intrinsic, and postrenal.
Acute kidney injury occurs in up to 30% of patients following cardiac surgery. Mortality increases by 60-80% in post-cardiopulmonary bypass patients who go on to require renal replacement therapy. Preoperative creatinine greater than 1.2 mg/dL, combined valve and bypass procedures, emergency surgery, and preoperative intra-aortic balloon pump are risk factors most strongly correlated with post-cardiopulmonary bypass acute kidney injury. Other well-known minor risk factors include female gender, congestive heart failure, chronic obstructive pulmonary disease, insulin-requiring diabetes, and depressed left ventricular ejection fraction. Volatile anesthetic agents have been shown to increase renal sympathetic nerve activity (RSNA), which causes retention of salts and water, diminished renal blood flow (RBF) and an increase in serum renin levels, but not in antidiuretic hormone (ADH).

Treatment
The management of AKI hinges on identification and treatment of the underlying cause. The main objectives of initial management are to prevent cardiovascular collapse and death and to call for specialist advice from a nephrologist. In addition to treatment of the underlying disorder, management of AKI routinely includes the avoidance of substances that are toxic to the kidneys, called nephrotoxins. These include NSAIDs such as ibuprofen or naproxen, iodinated contrasts such as those used for CT scans, many antibiotics such as gentamicin, and a range of other substances.Monitoring of kidney function, by serial serum creatinine measurements and monitoring of urine output, is routinely performed. In the hospital, insertion of a urinary catheter helps monitor urine output and relieves possible bladder outlet obstruction, such as with an enlarged prostate.

Prerenal
In prerenal AKI without fluid overload, administration of intravenous fluids is typically the first step to improving kidney function. Volume status may be monitored with the use of a central venous catheter to avoid over- or under-replacement of fluid.
If low blood pressure persists despite providing a person with adequate amounts of intravenous fluid, medications that increase blood pressure (vasopressors) such as norepinephrine, and in certain circumstances medications that improve the hearts ability to pump (known as inotropes) such as dobutamine may be given to improve blood flow to the kidney. While a useful vasopressor, there is no evidence to suggest that dopamine is of any specific benefit and may in fact be harmful.

Intrinsic
The myriad causes of intrinsic AKI require specific therapies. For example, intrinsic AKI due to vasculitis or glomerulonephritis may respond to steroid medication, cyclophosphamide, and (in some cases) plasma exchange. Toxin-induced prerenal AKI often responds to discontinuation of the offending agent, such as ACE inhibitors, ARB antagonists, aminoglycosides, penicillins, NSAIDs, or paracetamol.The use of diuretics such as furosemide, is widespread and sometimes convenient in improving fluid overload. It is not associated with higher mortality (risk of death), nor with any reduced mortality or length of intensive care unit or hospital stay.

Postrenal
If the cause is obstruction of the urinary tract, relief of the obstruction (with a nephrostomy or urinary catheter) may be necessary.

Renal replacement therapy
Renal replacement therapy, such as with hemodialysis, may be instituted in some cases of AKI. Renal replacement therapy can be applied intermittently (IRRT) and continuously (CRRT). Study results regarding differences in outcomes between IRRT and CRRT are inconsistent. A systematic review of the literature in 2008 demonstrated no difference in outcomes between the use of intermittent hemodialysis and continuous venovenous hemofiltration (CVVH) (a type of continuous hemodialysis). Among critically ill patients, intensive renal replacement therapy with CVVH does not appear to improve outcomes compared to less intensive intermittent hemodialysis. However, other clinical and health economic studies demonstrated that, initiation of CRRT is associated with a lower likelihood of chronic dialysis and was cost-effective compared with IRRT in patients with acute kidney injury.

Complications
Metabolic acidosis, hyperkalemia, and pulmonary edema may require medical treatment with sodium bicarbonate, antihyperkalemic measures, and diuretics.
Lack of improvement with fluid resuscitation, therapy-resistant hyperkalemia, metabolic acidosis, or fluid overload may necessitate artificial support in the form of dialysis or hemofiltration. However, oliguria during anesthesia may predict AKI, but the effect of a fluid load is highly variable. Striving toward a predefined urine output  target to prevent AKI is futile.

Early recovery of AKI
AKI recovery can be classified into three stages 1–3 on the basis of the inverse of the AKI KDIGO serum creatinine criteria.

Prognosis
Mortality
Mortality after AKI remains high. AKI has a death rate as high as 20%, which may reach up to 50% in the intensive care unit (ICU). Each year, around two million people die of AKI worldwide.AKI develops in 5% to 30% of patients who undergo cardiothoracic surgery, depending on the definition used for AKI </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Tidal wave and explain in detail? [/INST]  </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Coronavirus diseases and explain in detail? [/INST]  </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Provider and explain in detail? [/INST]  </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Turner syndrome and explain in detail? [/INST] Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partially or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, those affected do not develop menstrual periods, or breasts without hormone treatment and are unable to have children without reproductive technology. Heart defects, diabetes, and low thyroid hormone occur in the disorder more frequently than average. Most people with Turner syndrome have normal intelligence; however, many have problems with spatial visualization that may be needed in order to learn mathematics. Vision and hearing problems also occur more often than average.Turner syndrome is not usually inherited; rather, it occurs during formation of the reproductive cells in a parent or in early cell division during development. No environmental risks are known, and the mothers age does not play a role. While most people have 46 chromosomes, people with Turner syndrome usually have 45 in some or all cells. The chromosomal abnormality is often present in just some cells, in which case it is known as Turner syndrome with mosaicism. In these cases the symptoms are usually fewer, and possibly none occur at all. Diagnosis is based on physical signs and genetic testing.No cure for Turner syndrome is known. Treatment may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often required to manage other health problems with which Turner syndrome is associated.Turner syndrome occurs in between one in 2,000 and one in 5,000 females at birth. All regions of the world and cultures are affected about equally. Generally people with Turner syndrome have a shorter life expectancy, mostly due to heart problems and diabetes. American endocrinologist Henry Turner first described the condition in 1938. In 1964, it was determined to be due to a chromosomal abnormality.

Presentation
Turner syndrome has a number of physical and psychological impacts, including short stature, heart defects, neck webbing, delayed or absent puberty, and infertility. The phenotype of Turner syndrome is affected by mosaicism, where cell lines with a single sex chromosome are combined with those with multiple. Around 40%–50% of cases of Turner syndrome are true "monosomy X" with a 45,X0 karyotype, while the remainder are mosaic for another cell line, most commonly 46,XX, or have other structural abnormalities of the X chromosome. The classic features of Turner syndrome, while distinctive, may be rarer than previously thought; incidental diagnosis, such as in biobank samples or prenatal testing for older mothers, finds many girls and women with few traditional signs of Turner syndrome.

Physiological
Height
Turner syndrome is associated with short stature. The mean adult height of women with Turner syndrome without growth hormone therapy is around 20 cm (8 in) shorter than the mean of women in the general population. Mosaicism affects height in Turner syndrome; a large population sample drawn from the UK Biobank found women with 45,X0 karyotypes to have an average height of 145 cm (4 ft 9 in), while those with 45,X0/46,XX karyotypes averaged 159 cm (5 ft 2+1⁄2 in). The strength of the association between Turner syndrome and short stature is such that idiopathic short stature alone is a major diagnostic indication.Growth delay in Turner syndrome does not begin at birth; most neonates with the condition have a birth weight in the lower end of the normal range. Height begins to lag in toddlerhood, with a delayed growth velocity becoming apparent as early as 18 months. When girls with Turner syndrome begin school, their height is usually still not remarkably unusual; marked short stature becomes obvious in mid-childhood. In undiagnosed preadolescents and adolescents, growth delay may be mistaken for a side effect of delayed puberty and improperly treated. Short stature in Turner syndrome and its counterpoint, tall stature in sex chromosome polysomy conditions such as Klinefelter syndrome, XYY syndrome, and trisomy X, is caused by the short-stature homeobox gene on the X and Y chromosomes. The absence of a copy of the SHOX gene in Turners inhibits skeletal growth, resulting both in overall short stature and in a distinctive pattern of skeletal malformations including micrognathia (small chin), cubitus valgus (abnormal forearm angles), and short fingers.When Turner syndrome is diagnosed in early life, growth hormone therapy can decrease the degree of short stature. The use of growth hormone therapy in Turners originated from a series of studies in the 1980s finding it to substantially increase the height of treated girls, compared to prior adult height predictions and Turners growth charts; treatment with human growth hormone appears to increase expected adult height by approximately 7 cm (3 in) from an otherwise expected norm of 142 cm (4 ft 8 in)–147 cm (4 ft 10 in). In some cases oxandrolone, a steroid with a relatively mild masculinizing effect, may be used alongside growth hormone. The addition of oxandrolone to a Turners treatment regimen adds around 2 cm (1 in) to the final height. Oxandrolone is used particularly often in girls diagnosed later in their growth period, due to the reduced impact of growth hormone alone in this population. However, oxandrolone use runs the risk of delayed breast development, voice deepening, increased body hair, or clitoromegaly. The effects of growth hormone therapy are at their strongest during the first year of treatment and taper off over time.

Physical features
In addition to short stature, Turner syndrome is associated with a number of characteristic physical features. These include a webbed neck, a low hairline, a small chin and jaw, a high-arched palate, and a broad chest with wide-spaced nipples. Lymphedema (swelling) of the hands and feet is common at birth and sometimes persistent throughout the lifespan. Some Turners stigmata, such as cubitus valgus and shortened fingers, are related to SHOX gene dosage effects.A number of the external manifestations of Turner syndrome are focused on the limbs, hands, and feet. Lymphedema at birth is one of the classic features of the syndrome; though it often resolves during toddlerhood, recurrence in later life is frequent, often without apparent cause. Cases where the retained X chromosome was inherited from the mother more often experience lymphedema than those where it was from the father. As a consequence of lymphedemas effects on nail anatomy, females with Turner syndrome frequently have small hypoplastic nails. Shortened metacarpal bones, particularly the fourth metacarpal, are a frequent finding. The body shape of individuals with Turner syndrome is frequently quite broad and stocky, as the growth deficiency is more pronounced in the length of bones than in their width. Scoliosis is common in Turner syndrome, and is seen in 40% of girls without growth hormone treatment.Facial features associated with Turner syndrome include prominent ears, a low hairline, a webbed neck, a small chin with dental malocclusion, and downslanting palpebral fissures (the opening between the eyelids). These are thought to be related to lymphedema during the fetal period, specifically to the presence and resorption of excess fluids in the head and neck region. Neck webbing is a particularly distinctive trait of Turner syndrome, leading to many neonatal diagnoses. The underlying etiology of neck webbing is related to prenatal blood flow issues, and even in populations without Turners has broad health consequences; the rate of congenital heart disease in webbed neck is 150-fold higher than in the general population, while the feature is also associated with reduced height and minor developmental impairments. Some women with Turner syndrome have premature facial wrinkling. Acne is less common in teenage girls and women with Turner syndrome, though the reasons why are unclear.

Other physical features connected to the condition include long eyelashes, sometimes including an additional set of eyelashes, and unusual dermatoglyphics (fingerprints). Some women with Turners report being unable to create fingerprint passwords due to hypoplastic dermatoglyphics. Unusual dermatoglyphics are common to chromosome anomalies and in the case of Turners may be a consequence of fetal lymphedema. Keloid scars, or raised hypertrophic scars growing beyond the boundaries of the original wound, are potentially associated with Turner syndrome; however, the association is underresearched. Though traditional medical counselling on the topic urges conservatism about elective procedures such as ear piercing due to the risk of severe scarring, the actual consequences are unclear. Keloids in Turner syndrome are particularly frequent following surgical procedures to reduce neck webbing. Turner syndrome has been associated with unusual patterns of hair growth, such as patches of short and long hair. Armpit and pubic hair is often sparse, while arm and leg hair is often thick. Though armpit hair is reduced in amount and thickness, the pattern in which it is implanted in the skin is as in men, rather than as in women.

Cardiac
Approximately half of individuals with Turner syndrome have congenital heart defects. CHDs associated with Turner syndrome include bicuspid aortic valves (30%), coarctation of the aorta (15%), and abnormalities of the arteries in the head and neck. A rare but potentially fatal complication of heart defects in Turner syndrome is aortic dissection, where the inner layer of the aorta tears open. Aortic dissection is six times as common in females with Turner syndrome as the general population and accounts for 8% of all deaths in the syndrome. The risk is substantially increased for individuals with bicuspid aortic valves, who make up 95% of patients with aortic dissection compared to 30% of all Turners patients, and coarctation of the aorta, who make up 90% and 15% respectively.Coronary artery disease onsets earlier in life in women with Turner syndrome compared to controls, and mortality from cardiac events is increased. This is thought to be in part a function of the relationship between Turner syndrome and obesity; women with Turner syndrome have a higher percentage of body fat for their weight than control women, and their short stature makes weight control more difficult. Though coronary artery disease is frequently thought a disease of older adults, young women with Turner syndrome are more likely to develop the disease than their 46,XX peers. Treatment recommendations for women with Turner syndrome and coronary artery disease are as in the general population, but as Turners increases the risk of type 2 diabetes, women with insulin resistance must weigh up the benefits of prophylactic or early statin treatment with the risk of diabetes.

Internal medicine
Turner syndrome is associated with a broad variety of health considerations, such as liver and kidney issues, obesity, diabetes, and hypertension. Liver dysfunction is common in women with Turner syndrome, with 50%–80% having elevated liver enzymes. Non-alcoholic fatty liver disease is increased in prevalence in Turner syndrome, likely related in part to both conditions associations with obesity. Hepatic vascular diseases are also seen in the syndrome as an aspect of Turner syndromes broader vascular and cardiac impacts. Primary biliary cholangitis is more common in 45,X0 than 46,XX women. An unclear association exists between estrogen replacement therapy and liver dysfunction in Turner syndrome; some studies imply estrogen therapy worsens such conditions, while others imply improvement.

Kidney issues, such as horseshoe kidney, are sometimes observed in Turner syndrome. Horseshoe kidney, where the kidneys are fused together in a U-shape, occurs in around 10% of Turners cases compared to less than 0.5% of the general population. A missing kidney is observed in as many as 5% of individuals with Turner syndrome, compared to around 0.1% of the population. A duplicated ureter, where two ureters drain a single kidney, occurs in as much as 20%–30% of the Turner syndrome population. Kidney malformations in Turner syndrome may be more common in mosaicism than in the full 45,X0 karyotype. Serious complications of the kidney anomalies associated with Turner syndrome are rare, although there is some risk of issues such as obstructive uropathy, where the flow of urine from the kidneys is blocked.Women with Turner syndrome are more likely than average to have high blood pressure; as many as 60% of women with the condition are hypertensive. Isolated diastolic hypertension often precedes systolic hypertension in the condition and may develop at a young age. Treatments for hypertension in Turner syndrome are as in the general population.Approximately 25%–80% of women with Turner syndrome have some level of insulin resistance, and a minority develop type 2 diabetes. The risk of diabetes in Turner syndrome varies by karyotype and appears to be raised by specific deletions of the short arm of the X chromosome (Xp). One study found that while a relatively low 9% of women with Xq (long arm) deletions had type 2 diabetes, 18% of those with full 45,X0 karyotypes did, as well as 23% with Xp deletions. 43% of women with isochromosome Xq, who both lacked the short arm and had an additional copy of the long arm, developed type 2 diabetes. Though part of the diabetes risk in Turner syndrome is a function of weight control, some is independent; age- and weight-matched women with non-Turners ovarian failure have a lower diabetes risk than in Turner syndrome. Growth hormone treatment plays an unclear role in diabetes risk, as does estrogen supplementation.The association between Turner syndrome and other diseases, such as cancer, is unclear. Overall, women with Turner syndrome do not appear more likely to develop cancer than women with 46,XX karyotypes, but the specific pattern of what cancers are highest risk seems to differ. The risk of breast cancer appears lower in Turners than in control women, perhaps due to decreased levels of estrogen. Neuroblastoma, a cancer of infancy and early childhood, has been reported in girls with Turner syndrome. Tumours of the nervous system, both the central nervous system and the peripheral nervous system, are overrepresented amongst cancers in Turner syndrome. Furthermore, about 5.5% of Turner syndrome individuals have an extra, abnormal small supernumerary marker chromosome (sSMC) which consists of part of a Y chromosome. This partial Y chromosome-bearing sSMC may include the SRY gene located on the p arm of the Y chromosome at band 11.2 (notated as Yp11.2). This gene encodes the testis-determining factor protein (also known as sex-determining region Y protein). Turner syndrome individuals with this SRY gene-containing sSMC have a very real increased risk of developing gonadal tissue neoplasms such as gonadoblastomas and in situ seminomas (also termed dysgerminomas to indicate that this tumor has the pathology of the testicular tumor, seminoma, but develops in ovaries). In one study, 34 Turner syndrome girls without overt evidence of these tumors were found at preventative surgery to have a gonadoblastoma (7 cases), dysgerminoma (1 case), or non-specific in situ gonadal neoplasm (1 case). Turner syndrome girls with this sSMC otherwise have typical features of the Turner syndrome except for a minority who also have hirsutism and/or clitoral enlargement. Surgical removal of the gonads has been recommended to remove the threat of developing these sSMC-associated neoplasms. Tuner syndrome individuals with an sSMC that lacks the SRY gene are not at an increased risk of developing these cancers.

Sensory
Hearing loss is common in Turner syndrome. Though at birth hearing is generally normal, chronic middle ear problems are frequent throughout childhood, which can cause permanent conductive hearing loss. In adulthood, sensorineural hearing loss occurs more often than in 46,XX women and at younger ages; though differing thresholds of hearing loss make it difficult to compare between studies, younger adult women with Turner syndrome are routinely found to have disproportionate rates of hearing issues, with sometimes up to half of women in their 20s and 30s having poor hearing. This hearing loss is progressive; at the age of 40, women with Turner syndrome have equivalent hearing loss to 46,XX women aged 60, on average. Cohort studies imply hearing loss may be more common in women who also have metabolic syndrome. The high prevalence of sensorineural hearing loss in Turner syndrome appears to be related to SHOX deficiency.Ocular and visual disorders are also increased in prevalence in Turner syndrome. More than half of individuals with Turner syndrome have some form of eye disorder. This may be a consequence of shared genes on the X chromosome in both eye and ovary development. Nearly half of cases have hyperopia or myopia, usually mild. Strabismus, or misalignment of the eye, occurs in around one-fifth to one-third of girls with Turner syndrome. As with strabismus outside the Turners context, it may be treated with glasses, patching, or surgical correction. Esotropia, where the eye turns inwards, is more common than exotropia, where it turns outwards. Ptosis, or a drooping eyelid, is a common facial manifestation of Turner syndrome; it usually has no appreciable impact on vision, but severe cases may limit visual range and require surgical correction. The rate of red-green colourblindness in Turner syndrome is 8%, the same as in men. This is due to red-green colourblindness being an X-linked recessive condition; in people with a single X chromosome, whether normal males or Turner females, only a single mutated X is necessary for symptoms. Red-green colourblindness may be underdiagnosed in the Turner context, as the rarity of the condition in females reduces the likelihood of screening, and practitioners may not connect that the karyotype of Turner syndrome increases the risk from the female baseline.

Autoimmune
Women with Turner syndrome are two to three times as likely to develop autoimmune disorders as the general population. Specific autoimmune disorders linked to Turner syndrome include Hashimotos disease, vitiligo, psoriasis and psoriatic arthritis, alopecia, and celiac disease. Inflammatory bowel disease is also common, while the prevalence of type 1 diabetes is unclear, though appears increased.Thyroid disease is common in Turner syndrome. Hypothyroidism is prevalent; 30%–50% of women with Turner syndrome have Hashimotos disease, where the thyroid gland is slowly destroyed by an autoimmune reaction. By age 50, half of women with Turner syndrome have subclinical or clinical hypothyroidism. Hyperthyroidism and Graves disease are also increased in prevalence, though more modestly. The Turners presentation of hyperthyroidism is as in the general population, while the presentation of hypothyroidism is often atypical, with a mild early presentation yet a more severe progression. Women with isochromosome Xq are more likely to develop autoimmune thyroid disease than women with other forms of Turner syndrome.The risk of irritable bowel syndrome is increased around fivefold in Turner syndrome, and that of ulcerative colitis around fourfold. Celiac disease is also increased in prevalence, with around 4%–8% of Turners patients having comorbid celiac disease compared to 0.5%–1% of the general population. Diagnosis of such conditions is difficult due to their nonspecific early symptoms. In the Turners context, diagnosis may in particular be missed due to growth delay; such conditions cause growth delay and failure to thrive when they onset in childhood, but as girls with Turner syndrome already have such delay, symptoms may be overlooked and ascribed to the original condition.Alopecia areata, or recurrent patchy hair loss, is three times as common in Turner syndrome as the general population. Alopecia in the Turner syndrome context is frequently treatment-resistant, also seen in other chromosome aneuploidies such as Down syndrome. Psoriasis is common in Turner syndrome, although the precise prevalence is unclear. Turners psoriasis may be related to growth hormone treatment, as psoriasis as a side effect of such therapies has been reported in patients without the karyotype. Psoriasis may progress to psoriatic arthritis, and this progression may be more common in Turner syndrome. Vitiligo has been reported in conjunction with Turner syndrome, but the risk is unclear and may be a side effect of increased clinical attention to autoimmune disease in this population.

Puberty
Puberty is delayed or absent in Turner syndrome. A 2019 literature review found that 13% of women with a 45,X0 karyotype could expect to experience spontaneous thelarche (breast development), while 9% would undergo spontaneous menarche (beginning of menstruation). These numbers were higher in women with mosaic Turners; 63% with 45,X0/46,XX karyotypes experienced spontaneous thelarche and 39% spontaneous menarche, while 88% with 45,X0/47,XXX (the presence of a trisomy X cell line) experienced spontaneous thelarche and 66% spontaneous menarche. Unexpectedly, women with Y-chromosome cells also had increased rates of thelarche and menarche compared to the 45,X0 baseline, at 41% and 19%. However, few women with trisomy X or Y-chromosome cell lines were covered in the review, impeding extrapolation from these results. 6% of women with Turner syndrome have regular menstrual cycles; the rest experience primary or secondary amenorrhea or other menstrual dysfunction.: 84 In girls with Turner syndrome who do not experience spontaneous puberty, exogenous estrogen is used to induce and maintain feminization. Estrogen replacement is recommended to begin at around age 11–12, although some parents prefer to delay the induction of puberty in girls with lower social and emotional preparedness. The dose of estrogen in induced puberty begins at 10% of adult estrogen levels and is steadily increased at six-month intervals, with a full adult dose attained two to three years after the beginning of treatment. Estrogen replacement may interfere with growth hormone therapy, due to the closing effects of estrogen on growth plates; individuals must weigh up their preferences for taller height versus greater feminization.: 97–103

Fertility
Women with Turner syndrome are infertile. Only 2%–5% are capable of pregnancy without fertility treatment, most with mosaic karyotypes. Early in gestation, fetuses with Turner syndrome have a normal number of gametes in their developing ovaries, but this starts decreasingly rapidly as early as 18 weeks of pregnancy; by birth, girls with the condition have markedly reduced follicular counts. Women with Turner syndrome who wish to raise families but are incapable of conception with their own oocytes have the options of adoption or of pregnancy with donor eggs; the latter has a comparable success rate to donor pregnancy in women with 46,XX karyotypes.Pregnancy in Turner syndrome is inherently high-risk; the maternal death rate is 2%.Usually, estrogen replacement therapy is used to spur the growth of secondary sexual characteristics at the time when puberty should onset. While very few women with Turner syndrome menstruate spontaneously, estrogen therapy requires a regular shedding of the uterine lining ("withdrawal bleeding") to prevent its overgrowth. Withdrawal bleeding can be induced monthly, like menstruation, or less often, usually every three months, if the patient desires. Estrogen therapy does not make a woman with nonfunctional ovaries fertile, but it plays an important role in assisted reproduction; the health of the uterus must be maintained with estrogen if an eligible woman with Turner Syndrome wishes to use IVF (using donated oocytes).Especially in mosaic cases of Turner syndrome that contains Y-chromosome (e.g. 45,X/46,XY) due to the risk of development of ovarian malignancy (most common is gonadoblastoma) gonadectomy is recommended. Turner syndrome is characterized by primary amenorrhoea, premature ovarian failure (hypergonadotropic hypogonadism), streak gonads and infertility (however, technology (especially oocyte donation) provides the opportunity of pregnancy in these patients). Failure to develop secondary sex characteristics (sexual infantilism) is typical.

Cognition
Neurodevelopmental
Individuals with Turner syndrome have normal intelligence. Verbal IQ is usually higher than performance IQ; one review of thirteen studies found an average verbal IQ of 101 compared to an average performance IQ of 89.People with Turner syndrome have normal intelligence, and demonstrate relative strengths in verbal skills, but may exhibit weaker nonverbal skills – particularly in arithmetic, select visuospatial skills, and processing speed. Turner syndrome does not typically cause intellectual disability or impair cognition. However, learning difficulties are common among women with Turner syndrome, particularly a specific difficulty in perceiving spatial relationships, such as nonverbal learning disorder. This may also manifest itself as a difficulty with motor control or with mathematics. While it is not correctable, in most cases it does not cause difficulty in daily living. Most Turner syndrome patients are employed as adults and lead productive lives.
Also, a rare variety of Turner syndrome, known as "Ring-X Turner syndrome", has about a 60% association with intellectual disability. This variety accounts for around 2–4% of all Turner syndrome cases.

Psychological
Social difficulties appear to be an area of vulnerability for young women. Counseling affected individuals and their families about the need to carefully develop social skills and relationships may prove useful in advancing social adaptation. Women with Turner syndrome may experience adverse psychosocial outcomes which can be improved through early intervention and the provision of appropriate psychological and psychiatric care. Genetic, hormonal, and medical problems associated with Turner syndrome are likely to affect psychosexual development of female adolescent patients, and thus influence their psychological functioning, behavior patterns, social interactions, and learning ability. Although Turner syndrome constitutes a chronic medical condition, with possible physical, social, and psychological complications in a womans life, hormonal and estrogen replacement therapy, and assisted reproduction, are treatments that can be helpful for Turner syndrome patients and improve their quality of life. Research shows a possible association between age at diagnosis and increased substance use and depressive symptoms.

Prenatal
Despite the excellent postnatal prognosis, 99% of Turner syndrome conceptions are thought to end in miscarriage or stillbirth, and as many as 15% of all spontaneous abortions have the 45,X karyotype. Among cases that are detected by routine amniocentesis or chorionic villus sampling, one study found that the prevalence of Turner syndrome among tested pregnancies was 5.58 and 13.3 times higher, respectively, than among live neonates in a similar population.

Cause
Turner syndrome is caused by the absence of one complete or partial copy of the X chromosome in some or all the cells. The abnormal cells may have only one X (monosomy) (45,X) or they may be affected by one of several types of partial monosomy like a deletion of the short p arm of one X chromosome (46,X,del(Xp)) or the presence of an isochromosome with two q arms (46,X,i(Xq)) Turner syndrome has distinct features due to the lack of pseudoautosomal regions, which are typically spared from X-inactivation. In mosaic individuals, cells with X monosomy (45,X) may occur along with cells that are normal (46,XX), cells that have partial monosomies, or cells that have a Y chromosome (46,XY). The presence of mosaicism is estimated to be relatively common in affected individuals (67–90%).The (46,X,i(Xq) isochromosome in the Turner syndrome is classified as an small supernumerary marker chromosome (sSMC). Two of the types of sSMCs in this syndrome contain parts of the genetic material from either an X or, much less frequently, Y chromosome and may or may not contain an XIST gene. In normal females, the XIST gene occurs on the X chromosome inherited from her mother but not on the X chromosome inherited from her father. The gene is not present on Y chromosomes and in normal females resides on and functions to inactivate many of the genes located on its own maternal but not the fathers X chromosome. Turner syndrome females with (46,X,i(Xq) sSMC consisting of a partial X chromosome that does not contain the XIST gene express at least some of this sSMCs genetic material and therefore contain excesses of this material. In consequence, they have a more serious form of the Turner syndrome that ranges form moderately severe to extremely severe. The extremely severe cases have anencephaly (absence of a major portion of the brain, skull, and scalp), agenesis of the corpus callosum (lack of the thick tract of nerve fibers that connect the left and right cerebral hemispheres), and complex heart deformities. Individuals with Turner syndrome that have partial X chromosome containing(46,X,i(Xq) sSMCs that have the XIST gene do not express this sSMCs genetic material and do not have the more severe manifestations of the syndrome.

Inheritance
In the majority of cases where monosomy occurs, the X chromosome comes from the mother. This may be due to a nondisjunction in the father. Meiotic errors that lead to the production of X with p arm deletions or abnormal Y chromosomes are also mostly found in the father. Isochromosome X or ring chromosome X on the other hand are formed equally often by both parents. Overall, the functional X chromosome usually comes from the mother.
In most cases, Turner syndrome is a sporadic event, and for the parents of an individual with Turner syndrome the risk of recurrence is not increased for subsequent pregnancies. Rare exceptions may include the presence of a balanced translocation of the X chromosome in a parent, or where the mother has 45,X mosaicism restricted to her germ cells.

Diagnosis
Prenatal
Turner syndrome may be diagnosed by amniocentesis or chorionic villus sampling during pregnancy.
Usually, fetuses with Turner syndrome can be identified by abnormal ultrasound findings (i.e., heart defect, kidney abnormality, cystic hygroma, ascites). In a study of 19 European registries, 67.2% of prenatally diagnosed cases of Turner syndrome were detected by abnormalities on ultrasound. 69.1% of cases had one anomaly present, and 30.9% had two or more anomalies.An increased risk of Turner syndrome may also be indicated by abnormal triple or quadruple maternal serum screen. The fetuses diagnosed through positive maternal serum screening are more often found to have a mosaic karyotype than those diagnosed based on ultrasonographic abnormalities, and conversely, those with mosaic karyotypes are less likely to have associated ultrasound abnormalities.

Postnatal
Turner syndrome can be diagnosed postnatally at any age. Often, it is diagnosed at birth due to heart problems, an unusually wide neck or swelling of the hands and feet. However, it is also common for it to go undiagnosed for several years, often until the girl reaches the age of puberty and fails to develop typically (the changes associated with puberty do not occur). In childhood, a short stature can be indicative of Turner syndrome.A test called a karyotype, also known as a chromosome analysis, analyzes the chromosomal composition of the individual. This is the test of choice to diagnose Turner syndrome.

Treatment
As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms. While most of the physical findings are harmless, significant medical problems can be associated with the syndrome. Most of these significant conditions are treatable with surgery and other therapies including hormonal therapy.
Growth hormone, either alone or with a low dose of androgen, will increase growth and probably final adult height. Growth hormone is approved by the U.S. Food and Drug Administration for treatment of Turner syndrome and is covered by many insurance plans </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Sexual dysfunction and explain in detail? [/INST] Sexual dysfunction is difficulty experienced by an individual or partners during any stage of normal sexual activity, including physical pleasure, desire, preference, arousal, or orgasm. The World Health Organization defines sexual dysfunction as a "persons inability to participate in a sexual relationship as they would wish". This definition is broad and is subject to many interpretations. A diagnosis of sexual dysfunction under the DSM-5 requires a person to feel extreme distress and interpersonal strain for a minimum of six months (except for substance- or medication-induced sexual dysfunction). Sexual dysfunction can have a profound impact on an individuals perceived quality of sexual life. The term sexual disorder may not only refer to physical sexual dysfunction, but to paraphilias as well; this is sometimes termed disorder of sexual preference.
A thorough sexual history and assessment of general health and other sexual problems (if any) are important when assessing sexual dysfunction, because it is usually correlated with other psychiatric issues, such as mood disorders, eating and anxiety disorders, and schizophrenia. Assessing performance anxiety, guilt, stress, and worry are integral to the optimal management of sexual dysfunction. Many of the sexual dysfunctions that are defined are based on the human sexual response cycle proposed by William H. Masters and Virginia E. Johnson, and modified by Helen Singer Kaplan.

Types
Sexual dysfunction can be classified into four categories: sexual desire disorders, arousal disorders, orgasm disorders, and pain disorders. Dysfunction among men and women are studied in the fields of andrology and gynecology respectively.

Sexual desire disorders
Sexual desire disorders or decreased libido are characterized by a lack of sexual desire, libido for sexual activity, or sexual fantasies for some time. The condition ranges from a general lack of sexual desire to a lack of sexual desire for the current partner. The condition may start after a period of normal sexual functioning, or the person may always have had an absence or a lesser intensity of sexual desire.
The causes vary considerably but include a decrease in the production of normal estrogen in women, or testosterone in both men and women. Other causes may be aging, fatigue, pregnancy, medications (such as SSRIs), or psychiatric conditions, such as depression and anxiety. While many causes of low sexual desire are cited, only a few of these have ever been the object of empirical research.

Sexual arousal disorders
Sexual arousal disorders were previously known as frigidity in women and impotence in men, though these have now been replaced with less judgmental terms. Impotence is now known as erectile dysfunction, and frigidity has been replaced with a number of terms describing specific problems that can be broken down into four categories as described by the American Psychiatric Associations Diagnostic and Statistical Manual of Mental Disorders: lack of desire, lack of arousal, pain during intercourse, and lack of orgasm.For both men and women, these conditions can manifest themselves as an aversion to and avoidance of sexual contact with a partner. In men, there may be partial or complete failure to attain or maintain an erection, or a lack of sexual excitement and pleasure in sexual activity.
There may be physiological origins to these disorders, such as decreased blood flow or lack of vaginal lubrication. Chronic disease and the partners relationship can also contribute to dysfunction.
Additionally, postorgasmic illness syndrome (POIS) may cause symptoms when aroused, including adrenergic-type presentation: rapid breathing, paresthesia, palpitations, headaches, aphasia, nausea, itchy eyes, fever, muscle pain and weakness, and fatigue.
From the onset of arousal, symptoms can persist for up to a week in patients.
The cause of this condition is unknown; however, it is believed to be a pathology of either the immune system or autonomic nervous systems. It is defined as a rare disease by the National Institute of Health, but the prevalence is unknown. It is not thought to be psychiatric in nature, but it may present as anxiety relating to coital activities and may be incorrectly diagnosed as such. There is no known cure or treatment.

Erectile dysfunction
Erectile dysfunction (ED), or impotence, is a sexual dysfunction characterized by the inability to develop or maintain an erection of the penis. There are various underlying causes of ED, including damage to anatomical structures, psychological causes, medical disease, and drug use. Many of these causes are medically treatable.
Psychological ED can often be treated by almost anything that the patient believes in; there is a very strong placebo effect. Physical damage can be more difficult to treat. One leading physical cause of ED is continual or severe damage taken to the nervi erigentes, which can prevent or delay erection. These nerves course beside the prostate arising from the sacral plexus and can be damaged in prostatic and colorectal surgeries.
Diseases are also common causes of erectile dysfunctional. Diseases such as cardiovascular disease, multiple sclerosis, kidney failure, vascular disease, and spinal cord injury can cause erectile dysfunction. Cardiovascular disease can decrease blood flow to penile tissues, making it difficult to develop or maintain an erection.
Due to the shame and embarrassment felt by some with erectile dysfunction, the subject was taboo for a long time and is the focus of many urban legends. Folk remedies have long been advocated, with some being advertised widely since the 1930s. The introduction of perhaps the first pharmacologically effective remedy for impotence, sildenafil (trade name Viagra), in the 1990s caused a wave of public attention, propelled in part by the newsworthiness of stories about it and heavy advertising.
It is estimated that around 30 million men in the United States and 152 million men worldwide have erectile dysfunction. However, social stigma, low health literacy, and social taboos lead to under reporting which makes an accurate prevalence rate hard to determine.
The Latin term impotentia coeundi describes the inability to insert the penis into the vagina, and has been mostly replaced by more precise terms.
ED from vascular disease is seen mainly amongst older individuals who have atherosclerosis. Vascular disease is common in individuals who smoke or have diabetes, peripheral vascular disease, or hypertension. Any time blood flow to the penis is impaired, ED can occur.
Drugs are also a cause of erectile dysfunction. Individuals who take drugs that lower blood pressure, antipsychotics, antidepressants, sedatives, narcotics, antacids, or alcohol can have problems with sexual function and loss of libido.Hormone deficiency is a relatively rare cause of erectile dysfunction. In individuals with testicular failure, as in Klinefelter syndrome, or those who have had radiation therapy, chemotherapy, or childhood exposure to the mumps virus, the testes may fail to produce testosterone. Other hormonal causes of erectile failure include brain tumors, hyperthyroidism, hypothyroidism, or adrenal gland disorders.

Orgasm disorders
Anorgasmia
Anorgasmia is classified as persistent delays or absence of orgasm following a normal sexual excitement phase in at least 75% of sexual encounters.: 368  The disorder can have physical, psychological, or pharmacological origins. SSRI antidepressants are a common pharmaceutical culprit, as they can delay orgasm or eliminate it entirely. A common physiological cause of anorgasmia is menopause; one in three women report problems obtaining an orgasm during sexual stimulation following menopause.

Premature ejaculation
Premature ejaculation is when ejaculation occurs before the partner achieves orgasm, or a mutually satisfactory length of time has passed during intercourse. There is no correct length of time for intercourse to last, but generally, premature ejaculation is thought to occur when ejaculation occurs in under two minutes from the time of the insertion of the penis. For a diagnosis, the patient must have a chronic history of premature ejaculation, poor ejaculatory control, and the problem must cause feelings of dissatisfaction as well as distress for the patient, the partner, or both.Premature ejaculation has historically been attributed to psychological causes, but newer theories suggest that premature ejaculation may have an underlying neurobiological cause that may lead to rapid ejaculation.

Post-orgasmic disorders
Post-orgasmic disorders cause symptoms shortly after orgasm or ejaculation. Post-coital tristesse (PCT) is a feeling of melancholy and anxiety after sexual intercourse that lasts for up to two hours. Sexual headaches occur in the skull and neck during sexual activity, including masturbation, arousal or orgasm.
In men, POIS causes severe muscle pain throughout the body and other symptoms immediately following ejaculation. These symptoms last for up to a week. Some doctors speculate that the frequency of POIS "in the population may be greater than has been reported in the academic literature", and that many with POIS are undiagnosed.POIS may involve adrenergic symptoms: rapid breathing, paresthesia, palpitations, headaches, aphasia, nausea, itchy eyes, fever, muscle pain and weakness, and fatigue.
The etiology of this condition is unknown; however, it is believed to be a pathology of either the immune system or autonomic nervous systems. It is defined as a rare disease by the NIH, but the prevalence is unknown. It is not thought to be psychiatric in nature, but it may present as anxiety relating to coital activities and thus may be incorrectly diagnosed as such. There is no known cure or treatment.Dhat syndrome is another condition which occurs in men: it is a culture-bound syndrome which causes anxious and dysphoric mood after sex. It is distinct from the low-mood and concentration problems (acute aphasia) seen in POIS.

Sexual pain disorders
Sexual pain disorders in women include dyspareunia (painful intercourse) and vaginismus (an involuntary spasm of the muscles of the vaginal wall that interferes with intercourse).
Dyspareunia may be caused by vaginal dryness. Poor lubrication may result from insufficient excitement and stimulation, or from hormonal changes caused by menopause, pregnancy, or breastfeeding. Irritation from contraceptive creams and foams can also cause dryness, as can fear and anxiety about sex.
It is unclear exactly what causes vaginismus, but it is thought that past sexual trauma (such as rape or abuse) may play a role. Another female sexual pain disorder is vulvodynia, or vulvar vestibulitis when localized to the Vulval vestibule. In this condition, women experience burning pain during sex, which seems to be related to problems with the skin in the vulvar and vaginal areas. Its cause is unknown.
In men, structural abnormalities of the penis like Peyronies disease can make sexual intercourse difficult and/or painful. The disease is characterized by thick fibrous bands in the penis that lead to excessive curvature during erection. It has an incidence estimated at 0.4–3% or more, is most common in men 40–70, and has no certain cause. Risk factors include genetics, minor trauma (potentially during cystoscopy or transurethral resection of the prostate), chronic systemic vascular diseases, smoking, and alcohol consumption.Priapism is a painful erection that occurs for several hours and occurs in the absence of sexual stimulation. This condition develops when blood is trapped in the penis and is unable to drain. If the condition is not promptly treated, it can lead to severe scarring and permanent loss of erectile function. The disorder is most common in young men and children. Individuals with sickle-cell disease and those who use certain medications can often develop this disorder.

Causes
There are many factors which may result in a person experiencing a sexual dysfunction. These may result from emotional or physical causes. Emotional factors include interpersonal or psychological problems, which include depression, sexual fears or guilt, past sexual trauma, and sexual disorders.Sexual dysfunction is especially common among people who have anxiety disorders. Ordinary anxiety can cause erectile dysfunction in men without psychiatric problems, but clinically diagnosable disorders such as panic disorder commonly cause avoidance of intercourse and premature ejaculation. Pain during intercourse is often a comorbidity of anxiety disorders among women.Physical factors that can lead to sexual dysfunctions include the use of drugs, such as alcohol, nicotine, narcotics, stimulants, antihypertensives, antihistamines, and some psychotherapeutic drugs. For women, almost any physiological change that affects the reproductive system—premenstrual syndrome, pregnancy and the postpartum period, and menopause—can have an adverse effect on libido. Back injuries may also impact sexual activity, as can problems with an enlarged prostate gland, problems with blood supply, or nerve damage (as in sexual dysfunction after spinal cord injuries). Diseases such as diabetic neuropathy, multiple sclerosis, tumors, and, rarely, tertiary syphilis may also impact activity, as can the failure of various organ systems (such as the heart and lungs), endocrine disorders (thyroid, pituitary, or adrenal gland problems), hormonal deficiencies (low testosterone, other androgens, or estrogen), and some birth defects.
In the context of heterosexual relationships, one of the main reasons for the decline in sexual activity among these couples is the male partner experiencing erectile dysfunction. This can be very distressing for the male partner, causing poor body image, and it can also be a major source of low desire for these men. In aging women, it is natural for the vagina to narrow and atrophy. If a woman does not participate in sexual activity regularly (in particular, activities involving vaginal penetration), she will not be able to immediately accommodate a penis without risking pain or injury if she decides to engage in penetrative intercourse. This can turn into a vicious cycle that often leads to female sexual dysfunction.According to Emily Wentzell, American culture has anti-aging sentiments that have caused sexual dysfunction to become "an illness that needs treatment" instead of viewing it as a natural part of the aging process. Not all cultures seek treatment; for example, a population of men living in Mexico often accept ED as a normal part of their maturing sexuality.

Post SSRI sexual dysfunction
Sexual problems are common with SSRIs, which can cause anorgasmia, erectile dysfunction, diminished libido, genital numbness, and sexual anhedonia (pleasureless orgasm).  Poor sexual function is also one of the most common reasons people stop the medication. In some cases, symptoms of sexual dysfunction may persist after discontinuation of SSRIs.: 14  This combination of symptoms is sometimes referred to as Post-SSRI Sexual Dysfunction (PSSD).

Pelvic floor dysfunction
Pelvic floor dysfunction can be an underlying cause of sexual dysfunction in both women and men, and is treatable by pelvic floor physical therapy, a type of physical therapy designed to restore the health and function of the pelvic floor and surrounding areas.

Female sexual dysfunction
Several theories have looked at female sexual dysfunction, from medical to psychological perspectives. Three social psychological theories include: the self-perception theory, the overjustification hypothesis, and the insufficient justification hypothesis:

Self-perception theory: people make attributions about their own attitudes, feelings, and behaviours by relying on their observations of external behaviours and the circumstances in which those behaviours occur
Overjustification hypothesis: when an external reward is given to a person for performing an intrinsically rewarding activity, the persons intrinsic interest will decrease
Insufficient justification: based on the classic cognitive dissonance theory (inconsistency between two cognitions or between a cognition and a behavior will create discomfort), this theory states that people will alter one of the cognitions or behaviours to restore consistency and reduce distressThe importance of how a woman perceives her behavior should not be underestimated. Many women perceive sex as a chore as opposed to a pleasurable experience, and they tend to consider themselves sexually inadequate, which in turn does not motivate them to engage in sexual activity. Several factors influence a womens perception of her sexual life. These can include race, gender, ethnicity, educational background, socioeconomic status, sexual orientation, financial resources, culture, and religion. Cultural differences are also present in how women view menopause and its impact on health, self-image, and sexuality. A study found that African American women are the most optimistic about menopausal life; Caucasian women are the most anxious, Asian women are the most inhibited about their symptoms, and Hispanic women are the most stoic.About one-third of the women experienced sexual dysfunction, which may lead to these womens loss of confidence in their sexual lives. Since these women have sexual problems, their sexual lives with their partners can become a burden without pleasure, and may eventually lose complete interest in sexual activity. Some of the women found it hard to be aroused mentally, while others had physical problems. Several factors can affect female dysfunction, such as situations in which women do not trust their sex partners, the environment where sex occurs being uncomfortable, or an inability to concentrate on the sexual activity due to a bad mood or burdens from work. Other factors include physical discomfort or difficulty in achieving arousal, which could be caused by aging or changes in the bodys condition.Sexual assault has been associated with excessive menstrual bleeding, genital burning, and painful intercourse (attributable to disease, injury, or otherwise), medically unexplained dysmenorrhea, menstrual irregularity, and lack of sexual pleasure. Physically violent assaults and those committed by strangers were most strongly related to reproductive symptoms. Multiple assaults, assaults accomplished by persuasion, spousal assault, and completed intercourse were most strongly related to sexual symptoms. Assault was occasionally associated more strongly with reproductive symptoms among women with lower income or less education, possibly because of economic stress or differences in assault circumstances. Associations with unexplained menstrual irregularity were strongest among African American women; ethnic differences in reported circumstances of assault appeared to account for these differences. Assault was associated with sexual indifference only among Latinas.

Menopause
The most prevalent of female sexual dysfunctions that have been linked to menopause include lack of desire and libido; these are predominantly associated with hormonal physiology. Specifically, the decline in serum estrogens causes these changes in sexual functioning. Androgen depletion may also play a role, but current knowledge about this is less clear. The hormonal changes that take place during the menopausal transition have been suggested to affect womens sexual response through several mechanisms, some more conclusive than others.

Aging in women
Whether or not aging directly affects womens sexual functioning during menopause is controversial. However, many studies, including Hayes and Dennersteins critical review, have demonstrated that aging has a powerful impact on sexual function and dysfunction in women, specifically in the areas of desire, sexual interest, and frequency of orgasm. In addition, Dennerstien and colleagues found that the primary predictor of sexual response throughout menopause is prior sexual functioning, which means that it is important to understand how the physiological changes in men and women can affect sexual desire. Despite the apparent negative impact that menopause can have on sexuality and sexual functioning, sexual confidence and well-being can improve with age and menopausal status. The impact that a relationship status can have on quality of life is often underestimated.
Testosterone, along with its metabolite dihydrotestosterone, is important to normal sexual function in men and women. Dihydrotestosterone is the most prevalent androgen in both men and women. Testosterone levels in women at age 60 are on average about half of what they were before the women were 40. Although this decline is gradual for most women, those who have undergone bilateral oophorectomy experience a sudden drop in testosterone levels, as the ovaries produce 40% of the bodys circulating testosterone.Sexual desire has been related to three separate components: drive, beliefs and values, and motivation. Particularly in postmenopausal women, drive fades and is no longer the initial step in a womans sexual response.

Diagnosis
List of disorders
DSM
The fourth edition of the Diagnostic and Statistical Manual of Mental Disorders lists the following sexual dysfunctions:

Hypoactive sexual desire disorder (see also asexuality, which is not classified as a disorder)
Sexual aversion disorder (avoidance of or lack of desire for sexual intercourse)
Female sexual arousal disorder (failure of normal lubricating arousal response)
Male erectile disorder
Female orgasmic disorder (see anorgasmia)
Male orgasmic disorder (see anorgasmia)
Premature ejaculation
Dyspareunia
VaginismusAdditional DSM sexual disorders that are not sexual dysfunctions include:

Paraphilias
PTSD due to genital mutilation or childhood sexual abuse

Other sexual problems
Sexual dissatisfaction (non-specific)
Lack of sexual desire
Anorgasmia
Impotence
Sexually transmitted diseases
Delay or absence of ejaculation, despite adequate stimulation
Inability to control timing of ejaculation
Inability to relax vaginal muscles enough to allow intercourse
Inadequate vaginal lubrication preceding and during intercourse
Burning pain on the vulva or in the vagina with contact to those areas
Unhappiness or confusion related to sexual orientation
Transsexual and transgender people may have sexual problems before or after surgery.
Persistent sexual arousal syndrome
Sexual addiction
Hypersexuality
All forms of female genital cutting
Post-orgasmic diseases, such as Dhat syndrome, PCT, POIS, and sexual headacheS.

Treatment
Males
Several decades ago, the medical community believed most sexual dysfunction cases were related to psychological issues.  Although this may be true for a portion of men, the vast majority of cases have now been identified to have a physical cause or correlation. If the sexual dysfunction is deemed to have a psychological component or cause, psychotherapy can help. Situational anxiety arises from an earlier bad incident or lack of experience, and often leads to development of fear towards sexual activity and avoidance which enters a cycle of increased anxiety and desensitization of the penis. In some cases, erectile dysfunction may be due to marital disharmony. Marriage counseling sessions are recommended in this situation.
Lifestyle changes such as discontinuing tobacco smoking or substance use can also treat some types of ED. Several oral medications like Viagra, Cialis, and Levitra have become available to alleviate ED and have become first line therapy. These medications provide an easy, safe, and effective treatment solution for approximately 60% of men. In the rest, the medications may not work because of wrong diagnosis or chronic history.Another type of medication that is effective in roughly 85% of men is called intracavernous pharmacotherapy, which involves injecting a vasodilator drug directly into the penis to stimulate an erection. This method has an increased risk of priapism if used in conjunction with other treatments, and localized pain.Premature ejaculations are treated by behavioural techniques Squeeze technique and Stop Start Technique. In Squeeze technique the area between head and shaft of penis is pressed using index finger and thumb just before ejaculation. In Stop Start Technique the male partner stops having sexual intercourse just before ejaculation and waits for the sense of ejaculation to pass away. Both Techniques are repeated many times.When conservative therapies fail, are an unsatisfactory treatment option, or are contraindicated for use, the insertion of a penile implant may be selected by the patient. Technological advances have made the insertion of a penile implant a safe option for the treatment of ED, which provides the highest patient and partner satisfaction rates of all available ED treatment options.Pelvic floor physical therapy has been shown to be a valid treatment for men with sexual problems and pelvic pain.The 2020 guidelines from the American College of Physicians support the discussion of testosterone treatment in adult men with age-related low levels of testosterone who have sexual dysfunction. They recommend yearly evaluation regarding possible improvement and, if none, to discontinue testosterone; intramuscular treatments should be considered rather than transdermal treatments due to costs and since the effectiveness and harm of either method is similar. Testosterone treatment for reasons other than possible improvement of sexual dysfunction may not be recommended.

Females
In 2015, flibanserin was approved in the US to treat decreased sexual desire in women. While it is effective for some women, it has been criticized for its limited efficacy, and has many warnings and contraindications that limit its use. Women experiencing pain with intercourse are often prescribed pain relievers or desensitizing agents; others are prescribed vaginal lubricants. Many women with sexual dysfunction are also referred to a counselor or sex therapist.

Menopause
Estrogens are responsible for the maintenance of collagen, elastic fibers, and vasculature of the urogenital tract, all of which are important in maintaining vaginal structure and functional integrity; they are also important for maintaining vaginal pH and moisture levels, both of which help to keep the tissues lubricated and protected. Prolonged estrogen deficiency leads to atrophy, fibrosis, and reduced blood flow to the urogenital tract, which cause menopausal symptoms such as vaginal dryness and pain related to sexual activity and/or intercourse. It has been consistently demonstrated that women with lower sexual functioning have lower estradiol levels. Women experiencing vaginal dryness who cannot use commercial lubricants may be able to use coconut oil as an alternative.Androgen therapy for hypoactive sexual desire disorder has a small benefit but its safety is not known. It is not approved as a treatment in the United States. It is more commonly used among women who have had an oophorectomy or are in a postmenopausal state. However, like most treatments, this is also controversial. One study found that after a 24-week trial, women taking androgens had higher scores of sexual desire compared to a placebo group. As with all pharmacological drugs, there are side effects in using androgens, which include hirsutism, acne, polycythaemia, increased high-density lipoproteins, cardiovascular risks, and endometrial hyperplasia. Alternative treatments include topical estrogen creams and gels that can be applied to the vulva or vagina area to treat vaginal dryness and atrophy.

Research
In modern times, clinical study of sexual problems is usually dated back no earlier than 1970 when Masters and Johnsons Human Sexual Inadequacy was published. It was the result of over a decade of work at the Reproductive Biology Research Foundation in St. Louis, involving 790 cases. The work grew from Masters and Johnsons earlier Human Sexual Response (1966).
Prior to Masters and Johnson, the clinical approach to sexual problems was largely derived from Sigmund Freud. It was held to be psychopathology and approached with a certain pessimism regarding the chance of help or improvement. Sexual problems were merely symptoms of a deeper malaise, and the diagnostic approach was from the psychopathological viewpoint. There was little distinction between difficulties in function and variations nor between perversion and problems </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Optic nerve hypoplasia and explain in detail? [/INST] Optic nerve hypoplasia (ONH) is a medical condition arising from the underdevelopment of the optic nerve(s). This condition is the most common congenital optic nerve anomaly.  The optic disc appears abnormally small, because not all the optic nerve axons have developed properly. It is often associated with endocrinopathies (hormone deficiencies), developmental delay, and brain malformations. The optic nerve, which is responsible for transmitting visual signals from the retina to the brain, has approximately 1.2 million nerve fibers in the average person. In those diagnosed with ONH, however, there are noticeably fewer nerves.

Symptoms
ONH may be found in isolation or in conjunction with myriad functional and anatomic abnormalities of the central nervous system. Nearly 80% of those affected with ONH will experience hypothalamic dysfunction and/or impaired development of the brain, regardless of MRI findings or severity of ONH.

Vision
ONH can be unilateral (in one eye) or bilateral (in both eyes), although it presents most often bilaterally (80%). Because the unilateral cases tend to have better vision, they are typically diagnosed at a later age than those with bilateral ONH. Visual acuity can range from no light perception to near-normal vision.
Children diagnosed with ONH generally present with vision problems which include nystagmus (involuntary movement of the eyes), which tends to develop at 1 to 3 months and/or strabismus (inability to align both eyes simultaneously), manifested during the first year of life.
The majority of children affected experience improvement in vision during the first few years of life, though the reason for this occurrence is unknown. There have been no reported cases of decline in vision due to ONH.

Neuroradiographic abnormalities
Estimates of cerebral malformations vary from 39% to 90% of children with ONH. Abnormalities evident via neuroradiography can include agenesis (absence) or hypoplasia of the corpus callosum, absence or incomplete development of the septum pellucidum, malformations of the pituitary gland, schizencephaly, cortical heterotopia, white matter hypoplasia, pachygyria, and holoprosencephaly. Hypoplasia of the corpus callosum, often in conjunction with other major malformations, is significantly associated with poor and delayed developmental outcome.ONH is often referred to as septo-optic dysplasia, a term that refers to agenesis of the septum pellucidum. It is now clear that the absence of the septum pellucidum does not correlate with the associated symptoms of ONH.

Hypothalamic dysfunction
Dysfunction of the hypothalamus results in loss of regulation over behavior and function of the pituitary gland (master gland). Hypopituitarism is present in 75% to 80% of patients with ONH. The anterior pituitary gland contributes to growth, metabolism, and sexual development.  The most common pituitary endocrinopathies are growth hormone (GH) deficiency (70%), hypothyroidism (43%), adrenal insufficiency (27%), and diabetes insipidus (5%).Absence of GH may often be indicated by short stature, although this is not always the case. Other indicators of GH deficiency may include hypoglycemic events (including seizures), prolonged jaundice, micropenis in boys, and delayed dentition. Testing for GH may involve blood tests (IGF-1 and IGFBP-3), growth hormone stimulation test, or bone age x-ray of the hand or wrist (or body for children younger than 2 years).
A poorly functioning pituitary gland may also cause a lack of thyroid hormone, leading to central hypothyroidism. Thyroid hormone is critical for growth and brain development, especially during the first few weeks to months of life. Children with untreated hypothyroidism are at high risk of mental retardation; thus, early detection is crucial. Central hypothyroidism can be diagnosed by a low or normal thyroid-stimulating hormone (TSH) in the presence of a low level of free T4. Free T-4 should be checked annually for at least four years.Cortisol is made in times of stress.  Approximately one-quarter of patients with ONH have adrenal insufficiency, meaning they do not produce enough cortisol on a daily basis or in stressful situations.Imbalances in sex hormone may result in a delay in sexual development (puberty) or precocious puberty. Sex hormones may be tested from birth to 6 months of age (during a mini-puberty).
Hyperprolactinemia (an excess of prolactin) often occurs in conjunction with ONH and indicates either dysfunction of the hypothalamus or a disconnect between the hypothalamus and pituitary gland. Hyperprolactinemia often correlates with development of obesity in children with ONH.The posterior pituitary gland produces anti-diuretic hormone (ADH), which controls outflow of water from the body by urine. ADH deficiency, also known as diabetes insipidus (DI), results in dehydration and high sodium levels in the body from excessive urination. Testing for DI involves blood and urine testing, including water deprivation tests, to determine ADH creation levels by the body. DI may be treated with a medication called desmopressin acetate (DDAVP).Oxytocin is also produced in the posterior pituitary gland. Though best known for its role in childbirth and lactation, oxytocin has also been found to have a role in human bonding, increase in trust, and decrease in fear.
Hypothalamic dysfunction may also result in problems with feeding, sleep, and body temperature regulation.  Feeding behaviors in children with ONH often include hyperphagia (overeating), resulting in obesity; or hypophagia (reduced food intake) with or without weight loss. Children also frequently experience aversion to specific textures of food. Disturbance of circadian sleep rhythm, resulting in abnormal sleep-wake cycles, is noted in one-third of children with ONH. This disturbance could result in behavioral problems and disruption of family life.

Development
More than 70% of children with ONH experience developmental delay, ranging from isolated focal defects to delay in all areas of development (global delay). Motor delay is most common (75%) and communication delay is least common (44%). Predictors of significantly delayed development include hypoplasia or agenesis of the corpus callosum and hypothyroidism. The absence of the septum pellucidum does not predict developmental delay. Delays may occur in unilateral (39%) as well as bilateral (78%) cases.

Cause
Genetic risks
Mutations of genes involved in transcription regulation, chromatin remodelling, α-dystroglycan glycosylation, cytoskeleton and scaffolding protein, RNA splicing, and the MAP kinase signalling pathway are currently known to cause ONH. Many transcription factors for eye development are also involved in the morphogenesis of forebrain, which may explain why ONH is commonly a part of a syndrome involving brain malformations.ONH impacts all ethnic groups, although in the United States, occurrence is lower in persons of Asian descent. To date, there have been few reports of ONH occurrence in Asian countries, although it is uncertain why this is so.

Gestational and exposure history
Although many perinatal and prenatal risk factors for ONH have been suggested, the predominant, enduring, most frequent risk factors are young maternal age and primiparity (the affected child being the first child born to the mother). Increased frequency of delivery by caesarean section and fetal/neonatal complications, preterm labor, gestational vaginal bleeding, low maternal weight gain, and weight loss during pregnancy are also associated with ONH.

Diagnosis
ONH is diagnosed by ophthalmoscopic examination. Patients with ONH exhibit an optic nerve that appears smaller than normal and different in appearance from small optic nerves caused by other eye conditions such as optic (nerve) atrophy.DM:DD ratio has proven to be a clinically useful measurement to help diagnose optic nerve hypoplasia. Where "DM" represents the distance from Disk to Macula, and "DD" represents Disc Diameter.
The mean disc diameter (DD) is (Vertical diameter of Disc+Horizontal diameter of Disc) divided by 2. The distance between the center of the disc and the macula is DM.
Interpretation:  When the ratio of DM to DD is greater than 3, ONH is suspected, and when it is greater than 4, Optic Nerve Hypoplasia is definite.

Treatment
There is no cure for ONH; however, many therapeutic interventions exist for the care of its symptoms. These may include hormone therapy for hypopituitarism,  occupational, physical, and/or speech therapy for other issues, and services of a teacher for students with blindness/visually impairment. Special attention should be paid to early development of oral motor skills and acclimation to textured foods for children with texture aversion, or who are otherwise resistant to eating.Sleep dysfunction can be ameliorated using melatonin in the evening in order to adjust a childs circadian clock.Treatment for strabismus may include patching of the better eye, which may result in improved vision in the worse eye; however, this should be reserved for cases in which the potential for vision improvement in both eyes is felt to be good. Surgery to align the eyes can be performed once children with strabismus develop equal visual acuity in both eyes, most often after the age of three </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Ischemic optic neuropathy and explain in detail? [/INST]  </s>