Pathophysiology, genetics, and treatment of hyperandrogenism

Presenting symptoms of hirsutism and virilism often signal a disorder of androgen biosynthesis, especially one of the forms of adrenal hyperplasia. The genetics and physiology of the various disorders are reviewed, emphasizing those that results in increased adrenal androgen production. All of these disorders can be diagnosed genetically, permitting family counseling, and all can be treated successfully with appropriate hormonal replacement therapy. Premature adrenarche is not caused by an enzymatic disorder; its origins remain obscure but may be an early harbinger of the polycystic ovary syndrome.