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
    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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    Research cited in this study 2

    1. 5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review Hormones · 2018
    2. 5-Alpha Reductase Deficiency Current Opinion in Endocrinology, Diabetes and Obesity · 2014