Pubertal Suppression and Surgical Management of a Patient With 5-Alpha Reductase Deficiency

Lauren M. McGee, Michael Lin-Brande, Kathryn Woods, Casey A. Seideman

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Five-alpha reductase type 2 deficiency (5αRD2) 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 counseled 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 initiate puberty-blocking therapy prior to the onset of male puberty.

    Original languageEnglish (US)
    JournalUrology
    DOIs
    StateAccepted/In press - 2022

    ASJC Scopus subject areas

    • Urology

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