46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report

    May 2021 in “ Journal of Advances in Internal Medicine ”
    Anil Kumar Sah, Bipin Maharjan, Mahesh Bahadur Adhikari, Suman Baral, Mimi Giri
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    TLDR A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
    The document reported a case of a 13-year-old child with 46 XY Disorder of Sexual Development (DSD), who was raised as female and presented with hoarseness of voice and gradual enlargement of the clitoris. The hormonal assessment did not indicate 5 Alfa Reductase deficiency, Congenital Adrenal Insufficiency Syndrome, or 17β-Hydroxysteroid Dehydrogenase deficiency. This condition resulted from incomplete intrauterine masculinization, which could be due to decreased synthesis of testosterone or DHT, or impairment of androgen action.
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