Feminizing genitoplasty for a 3-year old female with ambiguous genitalia and congenital adrenal hyperplasia due to 21-hydroxylase deficiency

A case of a 3 year old female from Guam, USA with ambiguous genitalia is presented. She was previously diagnosed at early neonatal period with salt wasting variant of Classic Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency. She was maintained on fluodrocortisone and hydrocortisone since then. Referral to a Urologist was made only at this time for genitoplasty. The pathophysiology, diagnosis and treatment of her condition are discussed here with emphasis on the surgical reconstruction with reduction clitoroplasty and flap vaginoplasty. (Author)