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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    Studysummary This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
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