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Key Features

Essentials of Diagnosis

  • Hirsutism: increased hair, acne, menstrual disorders

  • Virilization: increased muscularity, androgenic alopecia, deepening of the voice, clitoromegaly; rarely, a palpable pelvic tumor

  • Urinary 17-ketosteroids, serum dehydroepiandrosterone sulfate (DHEAS) and androstenedione elevated in adrenal disorders, variable in others

  • Serum testosterone often elevated

General Considerations

  • Hirsutism is defined as cosmetically unacceptable terminal hair growth that appears in women in a male pattern

  • The amount of hair growth deemed unacceptable depends on a woman's ethnicity and familial and cultural norms

  • The Ferriman-Gallwey score is used to grade hirsutism

    • Grades range from 0 (none) to 4 (severe) in nine areas of the body

    • Scores 8-15 indicate moderate hirsutism

    • Scores over 15 indicate severe hirsutism

  • Virilization is defined as the development of male physical characteristics in women, such as

    • Pronounced muscle development

    • Deep voice

    • Male pattern baldness

    • More severe hirsutism

Causes of hirsutism

  • Idiopathic or familial—often hirsutism may be normal for genetic background

  • Polycystic ovary syndrome

    • Accounts for at least 50% of all cases of hirsutism associated with elevated serum testosterone levels

    • Must meet three criteria

      • Androgen excess with clinical hyperandrogenism and/or elevated serum free or total testosterone

      • Ovarian dysfunction with oligoanovulation and/or polycystic ovary morphology

      • Absence of other causes of testosterone excess or anovulation such as pregnancy, thyroid dysfunction, 21-hydroxylase deficiency, neoplastic testosterone secretion, Cushing syndrome, or hyperprolactinemia

  • Ovarian tumor (uncommon) and adrenal carcinoma (rare)

  • Steroidogenic enzyme defects

    • ~2% of adult-onset hirsutism is due to partial defect in adrenal 21-hydroxylase

    • Rare patients with hyperandrogenism and hypertension have 11-hydroxylase deficiency

    • Patients with XY karyotype and deficiency of 17α-hydroxysteroid dehydrogenase-3 or 5α-reductase-2 may present as phenotypic girls in whom virilization develops at puberty

  • Other rare causes of hirsutism and virilization

    • Acromegaly

    • ACTH-induced Cushing syndrome

    • Adrenal carcinoma

    • Genetic cortisol resistance

    • Porphyria cutanea tarda

    • Maternal virilization during pregnancy due to luteoma of pregnancy

    • Hyperreactio luteinalis

    • Diffuse stromal Leydig cell hyperplasia in postmenopausal women

    • Acquired hypertrichosis lanuginosa (diffuse fine hair growth on face and body in association with malignancy, especially colorectal cancer)

    • Pharmacologic causes

      • Minoxidil

      • Cyclosporine

      • Phenytoin

      • Anabolic steroids

      • Interferon

      • Cetuximab

      • Diazoxide

      • Certain progestins

Clinical Findings

Symptoms and Signs

  • Increased sexual hair (chin, upper lip, abdomen, and chest)

  • Acne due to increased sebaceous gland activity

  • Menstrual irregularities, anovulation, and amenorrhea common

  • Defeminization

    • Breast size decrease

    • Loss of feminine adipose tissue

  • Virilization implicates presence of testosterone-producing neoplasm

    • Frontal balding

    • Muscularity

    • Clitoromegaly

    • Deepening of voice

  • Hypertension is seen in rare conditions with Cushing syndrome, adrenal 11-hydroxylase deficiency, or cortisol resistance syndrome

  • Ovarian enlargement may be cystic or neoplastic

  • Polycystic ovary syndrome is associated with hypertension and hyperlipidemia

Diagnosis

Laboratory Tests

  • Serum androgens are mainly useful to screen for rare occult adrenal or ovarian neoplasms

    • Serum testosterone > 200 ng/dL (6.9 nmol/L) or free testosterone > 40 ng/dL (> 140 pmol/L) indicates need for ...

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