Background: Neonatal clitoromegaly is usually attributed to androgen stimulation secondary to congenital adrenal hyperplasia or in utero androgen exposure. We present a unique case of transient, isolated neonatal clitoromegaly, associated with increased androgen levels of unidentifiable cause, which spontaneously resolved when the androgen levels normalized. This is the first report where, despite an exhaustive workup, the cause of hyperandrogenism remains unknown.
Case: A female infant was delivered at 25 + 5 weeks gestational age. Clitoromegaly was first documented at 3 months of age (18 mm long, |13 mm wide). There was no other evidence of virilization. There was no neonatal history of transfusions or androgen-medication exposure. Initial bloodwork documented extremely high levels of free testosterone (117 pmol/L) and dehydroepiandrosterone sulfate (DHEAS). Further tests ruled out the following diagnoses: 21-hydroxylase deficiency, 11-betahydroxylase deficiency, testicular feminization, presence of ovotesticular tissue, and androgen-secreting tumors. Maternal history ruled out in utero androgen exposure, maternal drug use, hyperandrogenism, or virilization during pregnancy, and antenatal imaging had not detected a maternal ovarian mass or adrenal tumor. The infant's androgen levels spontaneously declined, and by 4 months of age had normalized without therapy (free testosterone 8 pmol/L). At 5 months of age, the clitoral measurements normalized (10mm long, 5mm wide).
Conclusion: In this case of a premature female infant, hyperandrogenism and clitoromegaly resolved spontaneously. Only 1 other case of hyperandrogenism and clitoromegaly that resolved spontaneously in a preterm infant has been reported. In that case, the clitoromegaly and high testosterone levels were attributed to repeated blood transfusions from an adult male. The etiology of the hyperandrogenism and resultant clitoromegaly in our case is not known.