Unfortunately, the number of differentials to consider for<unk>  is particularly large. Prompt diagnosis is particularly urgent when a child is born with ambiguous genitalia, as some causes are associated with potentially life-threatening adrenal crises. Determination of testosterone, testosterone precursors and dihydrotestosterone (DHT) at baseline and / or after human chorionic gonadotropin (hCG) stimulation can be used to exclude such defects in androgen biosynthesis. Approximately one half of all 46,XY individuals born with ambiguous genitalia will not receive a definitive diagnosis. Androgen receptor (AR) gene mutations cannot be found in 27% to 72% of individuals with<unk> . As a result, genetic analysis can be used to confirm a diagnosis of<unk> , but it cannot be used to rule out<unk> . Evidence of abnormal androgen binding in a genital skin fibroblast study has long been the gold standard for the diagnosis of<unk> , even when an AR mutation is not present. However, some cases of<unk> , including AR-mutant-positive cases, will show normal androgen binding. A family history consistent with X-linked inheritance is more commonly found in AR-mutant-positive cases than AR-mutant-negative cases. The use of dynamic endocrine tests is particularly helpful in isolating a diagnosis of<unk> . One such test is the human chorionic gonadotropin (hCG) stimulation test. If the gonads are testes, there will be an increase in the level of serum testosterone in response to the hCG, regardless of testicular descent. The magnitude of the testosterone increase can help differentiate between androgen resistance and gonadal dysgenesis, as does evidence of a uterus on ultrasound examination. Testicular function can also be assessed by measuring serum anti-Müllerian hormone levels, which in turn can further differentiate<unk>  from gonadal dysgenesis and bilateral anorchia. Another useful dynamic test involves measuring the response to exogenous steroids; individuals with AIS show a decreased response in serum sex hormone binding globulin (SHBG) after a short term administration of anabolic steroids. Two studies indicate that measuring the response in SHBG after the administration of stanozolol could help to differentiate individuals with<unk>  from those with other causes of ambiguous genitalia, although the response in individuals with predominantly male phenotypes overlaps somewhat with the response in normal males.
Partial androgen insensitivity syndrome
Mild androgen insensitivity syndrome
Complete androgen insensitivity syndrome
Androgen insensitivity syndrome
Estrogen insensitivity syndrome
Aromatase excess syndrome
Gonadotropin-releasing hormone insensitivity
Kallmann syndrome