5α Reductase Deficiency: A Rare Cause of Ambiguous Genitalia and Gender Dysphoria

    October 2024 in “ JCEM Case Reports
    Ellen Wall, Veena Jayadev
    TLDR 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
    This document discusses a case of pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency, a rare condition causing ambiguous genitalia and gender dysphoria. The deficiency leads to ambiguous genitalia at birth and typically male secondary sexual characteristics at puberty due to increased testosterone. The patient, raised female and having undergone bilateral orchidectomy in infancy, showed no male secondary features and presented with gender dysphoria. Genetic testing revealed pathogenic variants in the <i>SRD5A2</i> gene. Treatment with injectable testosterone undecanoate successfully induced male secondary sexual characteristics.
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