Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy

    September 2020 in “ Journal of Health, Medicine and Nursing ”
    Androniko Setiawan, Andrian, Tjahjo Djojo Tanojo, Rina Yudiwati
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    TLDR A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
    In the 2020 case report, a 10-year-old twin boy with 46, XY disorder of sex development presented with proximal hypospadias, a congenital defect where the urethral opening is abnormally positioned on the penis, and an undescended testis. Hypospadias is believed to result from disrupted urethral fold fusion between the 8th and 15th weeks of gestation, potentially influenced by dihydrotestosterone. The exact cause of hypospadias remains unclear, with multiple factors suspected. The boy underwent various examinations and evaluations to determine the diagnosis, underlying cause, treatment plan, and necessary follow-up.
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