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1. 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report Journal of Advances in Internal Medicine · 2021
2. Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development Seminars in reproductive medicine · 2012 · 46 citations
3. Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development Case Reports in Genetics · 2025
4. Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV) British Journal of Haematology · 2026
5. Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting Annals of medicine and surgery · 2022
6. Steroidogenesis of the testis – new genes and pathways Annales d'endocrinologie · 2014 · 70 citations
7. 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient AACE clinical case reports · 2022 · 1 citations
8. A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus Experimental and Clinical Endocrinology & Diabetes · 2012
9. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
10. SUN-069 A 14 Year Old Female with Primary Amenorrhea Journal of the Endocrine Society · 2020

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