Pubertal Suppression and Surgical Management of a Patient with 5-alpha Reductase Deficiency

Five-alpha reductase type 2 deficiency (5 αRD2) is a rare cause of atypical genitalia in newborns. There are no definitive guidelines regarding management of children with this disorder. While many children are raised as female given the under-virilized appearance of their external genitalia at birth, these patients are historically counse led to undergo male puberty, resulting in a change in gender identity from female to male in more than half of post-pubertal patients. Here we report the first case of a patient with 5αRD2who identified as female from a very early age, strongly desired gender-affirming surgery, and elected to initi ate puberty-blocking therapy prior to the onset of male puberty.
Source: Urology - Category: Urology & Nephrology Authors: Source Type: research