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.
November 2013 in “John Wiley & Sons, Ltd eBooks” The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
218 citations
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December 2011 in “Advances in Urology” The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
