The diagnosis of acquired disorders of sex differentiation requires a thorough history-taking and examination.1–3
A girl aged 3 years presented for assessment of clitoral enlargement and swelling and darkening of the labia majora with onset one month prior (Fig. 1).
The physical examination of the labia majora revealed a shape resembling a scrotum, mild pigmentation and posterior synechiae. The clitoris measured 30×10mm, had an erythematous appearance and seemed tender on palpation. There were no palpable inguinal masses nor pubic hair.
The abdominal ultrasound showed a prepubertal uterus and small ovaries.
Laboratory tests found normal levels of 17-hydroxyprogesterone, dehydroepiandrosterone sulphate and gonadotropins, with elevation of testosterone (3.73ng/mL; normal range, 0.02–0.1ng/mL) that had decreased at 4 days (0.66ng/mL). Both samples had been analysed by tandem mass spectrometry, evincing significant elevation (0.95ng/mL) and the subsequent descent (0.25ng/mL). One month later, her level of testosterone was 0.03ng/mL and the clitoris was less enlarged, measuring 27×10mm.
Privately, the father reported he had been in treatment with topical testosterone for erectile dysfunction starting a month before and that he coslept with the patient. The patient’s symptoms had started at the same time as the paternal treatment. Therefore, the patient received a diagnosis of clitoromegaly secondary to exogenous androgen exposure. The patient remained in follow-up to monitor the resolution of enlargement, with a favourable outcome and normalization of testosterone levels after avoiding cosleeping.
In cases of virilization or pseudo-precocious puberty, an exogenous drug-induced cause should be suspected,1–3 and avoidance of skin-to-skin contact should be prescribed for the duration of the paternal androgen therapy.3
