Male intersexuality presenting at puberty.

A 15-year-old girl was referred to the Endocrine Unit because of a deep voice and the absence of menstruation. Secondary sex hair showed a male pattern of distribution and there was a phallic clitoris 4 cm long, with the urethral orifice posterior. Plasma testosterone was within the normal male range. The karyotype was 46XY. Gonadectomy and clitoridectomy were performed. Histology suggested a diagnosis of anatomical testicular failure, which, in view of the imperfect attempt at masculinization, was thought to be only partial. Possible causes are discussed.