ESSENTIALS OF DIAGNOSIS
Hirsutism, acne, menstrual disorders.
Virilization: muscularity, androgenic alopecia, deepening voice, clitoromegaly.
Rarely, a palpable pelvic tumor.
Urinary 17-ketosteroids, serum DHEAS and androstenedione elevated in adrenal disorders; variable in others.
Serum testosterone is often elevated.
Hirsutism is defined as cosmetically unacceptable terminal hair growth that appears in women in a male pattern. Significant hirsutism affects about 5–10% of non-Asian women of reproductive age and over 40% of women at some point during their life. The amount of hair growth deemed unacceptable depends on a woman’s ethnicity and familial and cultural norms. Virilization is defined as the development of male physical characteristics in women, such as pronounced muscle development, deep voice, male pattern baldness, and more severe hirsutism.
Hirsutism may be idiopathic or familial or be caused by the following disorders: polycystic ovary syndrome (PCOS), ovarian hyperthecosis, steroidogenic enzyme defects, neoplastic disorders; or rarely by medications, acromegaly, or ACTH-induced Cushing disease.
A. Idiopathic or Familial
Most women with hirsutism or androgenic alopecia have no detectable hyperandrogenism. Patients often have a strong familial predisposition to hirsutism that may be considered normal in the context of their genetic background. Such patients may have elevated serum levels of androstenediol glucuronide, a metabolite of dihydrotestosterone that is produced by skin in cosmetically unacceptable amounts.
B. Polycystic Ovary Syndrome (PCOS, Hyperthecosis, Stein-Leventhal Syndrome)
PCOS is a common functional disorder of the ovaries of unknown etiology (see Chapter 18-18). It accounts for at least 50% of all cases of hirsutism associated with elevated serum testosterone levels. It is familial and transmitted as a complex polygenic disorder whose phenotypic expression may involve both protective and susceptible genomic variants.
A diagnosis of PCOS must meet three criteria: (1) androgen excess with clinical hyperandrogenism or elevated serum free or total testosterone; (2) ovarian dysfunction with oligoanovulation or polycystic ovary morphology; and (3) absence of other causes of testosterone excess or anovulation such as pregnancy, thyroid dysfunction, 21-hydroxylase deficiency, neoplastic testosterone secretion, Cushing syndrome, or hyperprolactinemia.
Affected women usually have signs of hyperandrogenism, including hirsutism, acne, or male-pattern thinning of scalp hair; this persists after natural menopause. However, women of East Asian ancestry are less likely to exhibit hirsutism. Most women also have elevated serum testosterone or free testosterone levels. About 70% of affected women have polycystic ovaries on pelvic ultrasound and 50% have oligomenorrhea or amenorrhea with anovulation. Of note, about 30% of women with PCOS do not have cystic ovaries and 25–30% of normal menstruating women have cystic ovaries.
Obesity and high serum insulin levels (due to insulin resistance) contribute to the syndrome in 70% of women. The serum LH:FSH ratio is often greater than 2.0. Both adrenal and ovarian androgen hypersecretion are commonly present. Women with PCOS have a 35% risk of ...