Clitoral cyst as a cause of ambiguous genitalia

Ambiguous genitalia need appropriate evaluation, because a serious disease can manifest as this condition.

A 28-year-old woman was referred with a "penis" present from age 12 years that enlarged throughout puberty but recently was unchanged. Differential diagnosis included true hermaphroditism; adrenal hyperplasia; clitoral, ovarian, and adrenal neoplasms; stromal hyperthecosis; polycystic ovarian syndrome; and exogenous androgen exposure. Free testosterone was not elevated. Dehydroepiandrosterone sulfate, 17-hydroxyprogesterone, total testosterone, androstenedione, deoxycorticosterone, 11-deoxycortisol, chromosomal analysis (46,XX), an intravenous pyelogram, and pelvic ultrasound were normal. The patient elected surgical removal. The mass was a chronic inflamed epidermoid cyst.

If this patient had been appropriately evaluated earlier, she would have been spared anxiety and embarrassment over a simple epidermoid cyst.