September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
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April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
May 2021 in “Journal of Advances in Internal Medicine” A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.