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

    October 2024 in “ JCEM Case Reports
    Ellen Wall, Veena Jayadev
    Studysummary In this case report, a patient with pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency presented gender dysphoria, and after genomic sequencing confirmation, injectable testosterone undecanoate treatment successfully developed desired male secondary sexual characteristics.
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