Clitoral Hypertrophy in the Premature: Another Possible Cause :

Neonatal clitoromegaly in premature females in believed to occur most often due to congenital adrenal hyperplasia’s (CAH) associated androgen exposure. A number of previously reported cases of premature infants with clitoromegaly and without CAH or alteration in sexual development are known.  These reported patients were found to improve with normalization of phallus size over time.   Dr. Laure-Nerre and her colleagues working at the University of Rennes in Rennes France provide new understanding to this presentation with a Case Report being released online this month (10.1542/peds.2016-1807).  They bring to our attention two premature infants with clitoromegaly and negative workup for evidence of congenital adrenal hyperplasia or a condition associated with ambiguous genital who were found to have high circulating levels of androgen and ovarian cyst(s) by ultrasound imaging.  Aspirate from one such cyst found that the cyst fluid contained high androgen levels.  The clitoromegaly and the circulating level of androgen began to normalize in that infant after the aspiration was performed.  The second patient who also had an ovarian cyst was followed expectantly.  The cyst resolved over time as did the clitoromegaly.  The authors suggests that in addition to the usual evaluation of the infant with clitoromegaly, ultrasound of the ovaries to look for an ovarian cyst is indicated.  When the evaluation is negative except for the cyst, watchful waiting is the appropriate course of action, which because of this observation, can be undertaken with more confidence.  Dr. Laure-Nerre et al provide an explanation of this finding based on the fetal hypothalamic/pituitary gonadal axis maturation in the extreme premature infant.