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

46 XY Disorder of Sexual Development ambiguous genitalia 5 Alfa Reductase deficiency Congenital Adrenal Insufficiency Syndrome 17β-Hydroxysteroid Dehydrogenase deficiency testosterone DHT androgen action androgenic hormones dihydrotestosterone

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

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