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It is most often diagnosed by checking for signs of hirsutism according to a standardized method that scores the range of excess hair growth. [11] [12] Girls may show symptoms of hyperandrogenism early in life, but physicians become more concerned when the patient is in her late teens or older. [12]
Obesity is the chief symptom of HAIR-AN. [4] In the majority of young women affected by HAIR-AN, hyperandrogenism leads to oily skin, acne, hirsutism, menstrual irregularities and, in some cases, androgenic alopecia, clitoromegaly, changes in muscle mass and deepening of the voice.
However, unlike 21-hydroxylase CAH, children with 3β-HSD CAH may be unable to produce adequate amounts of testosterone (boys) or estradiol (girls) to effect normal pubertal changes. Replacement testosterone or estrogen and progesterone can be initiated at adolescence and continued throughout adult life.
For those with signs of hyperandrogenism (excessive androgen hormones) and other hormonal imbalances, spironolactone may be an effective treatment for female pattern hair loss.
Hypergonadism is a condition where there is a hyperfunction of the gonads. [1] It can manifest as precocious puberty, and is caused by abnormally high levels of testosterone or estrogen, crucial hormones for sexual development.
The nonclassic form may be noticed in late childhood and may lead to signs of hyperandrogenism such as accelerated growth, acne, hirsutism, premature pubarche, menstrual irregularities, [14] and secondary polycystic ovary syndrome. [15] In adult males, early balding [14] and infertility may suggest the diagnosis.
As a result, ACTH levels increase, leading to adrenocortical hyperplasia and overproduction of cortisol precursors, which are used in the synthesis of sex steroids, which can lead to signs of androgen excess, including ambiguous genitalia in newborn girls and rapid postnatal growth in both sexes. [1]
If hair growth follows a male distribution, it could indicate the presence of increased androgens or hyperandrogenism. However, there are other hormones not related to androgens that can lead to hirsutism. A detailed history is taken by a provider in search of possible causes for hyperandrogenism or other non-endocrine-related causes.