Idiopathic persistent urogenital sinus with megaclitoris in a 3-year-old 46, xx girl: Surgical management and long-term planning; A case report

Abstract

We report a case of a 5-year-old girl with a 46, XX karyotype presenting with idiopathic persistent urogenital sinus (PUGS) and significant clitoromegaly, without congenital adrenal hyperplasia (CAH) or other detectable hyperandrogenism. The child presented with a history and physical examination suggestive of ambiguous genitalia, comprising an enlarged clitoris, absent labia minora, and a single common channel for the urethra and vagina, with no symptoms suggestive of congenital adrenal hyperplasia and no identifiable antenatal and postnatal risk factors. In the course of follow-up, a series of investigations were done, which found normal 17?-hydroxyprogesterone levels, elevated gonadotropins and testosterone (likely age-inappropriate), karyotyping confirming 46, XX, imaging (ultrasound, MRI), cystoscopy, and diagnostic laparoscopy, which revealed normal internal female genitalia (uterus and ovaries). Genitoplasty was performed at the age of 5 years, consisting of clitoroplasty by John Hutson’s technique. Bisection of the freed clitoral skin produced two flaps used to construct the labia minora. Vaginoplasty was deferred to a later stage to minimize risks of stenosis and preserve future sexual function. This rare idiopathic presentation highlights the challenges in managing non-CAH 46, XX disorders of sex development (DSD) with PUGS, emphasizing the value of multidisciplinary evaluation, staged surgical approach, and long-term follow-up for optimal cosmetic, functional, and psychological outcomes.