46,XY Disorders of Sex Development Due to Type 2 5-Alpha Reductase Deficiency in Three Siblings: A Case Report from a Low-Resource Setting

    September 2022 in “ Annals of medicine and surgery ”
    Artha Falentin Putri Susilo, Kevin Dominique Tjandraprawira, Patrick Bayu, Hartanto Bayuaji
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    TLDR Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
    The document is a case report on three siblings diagnosed with Disorders of Sexual Development (DSD) 46,XY due to type 2 5-α reductase deficiency, a condition that hinders male genital development. Despite being raised as females, they had late menarche and atypical genital development. Lab tests showed normal male testosterone levels and a 46 XY karyotype, while imaging revealed no female internal genital structures but undescended testes. Two siblings experienced gender dysphoria and chose to identify as male. The report emphasizes the need for early diagnosis, psychological evaluation, and patient and family involvement in gender identity decisions. Treatment should be individualized, with high-dose testosterone or dihydrotestosterone for those choosing to be male, and low-dose estrogen for those choosing to be female. The timing of surgical correction varies, ideally within the first 18 months for masculinizing genitoplasty and within the first year for feminizing genitoplasty. Holistic diagnosis and management can enhance patients' quality of life.
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