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    1. Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants Frontiers in Genetics · 2024 · 13 citations
    2. Disorders of Sex Development Pediatrics in review · 2021 · 4 citations
    3. 46,XY DSD due to impaired androgen production 2010 · 54 citations
    4. Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report American Journal of Case Reports · 2025
    5. ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic Journal of the Endocrine Society · 2022
    6. 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
    7. Case Report: Disorder of Sexual Development in a Chinese Crested Dog With XX/XY Leukocyte Chimerism and Mixed Cell Testicular Tumors Frontiers in Veterinary Science · 2022 · 2 citations
    8. Dermatologic care of patients with differences of sex development International Journal of Women’s Dermatology · 2023 · 1 citations
    9. Physiology of Male Gonadotropic Axis and Disorders of Sex Development Springer eBooks · 2017
    10. Compound glycyrrhizin promotes hair growth in C57BL/6 mice by regulating the Wnt/β-catenin pathway Dermatologica Sinica · 2025
    11. Current understanding and treatment of sex hormone-related hair diseases Dermatologica Sinica · 2023
    12. Standards of Care for the Health of Transsexual, Transgender, and Gender-Nonconforming People, Version 7 2012 · 2295 citations
    13. Exploring the efficacy of testosterone undecanoate in male children with 5α‐reductase deficiency Pediatric investigation · 2021 · 5 citations
    14. Androgen Treatment in Adolescent Males With Hypogonadism American journal of men's health · 2020 · 19 citations
    15. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
    16. Alternative androgen pathways WikiJournal of Medicine · 2023
    17. The diversity of sex development: What do conditions affecting sex development teach us about sexual diversity? Physiology News · 2021
    18. Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development Seminars in reproductive medicine · 2012 · 46 citations
    19. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    20. A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome AACE Clinical Case Reports · 2015 · 1 citations
    21. 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
    22. 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report Journal of Advances in Internal Medicine · 2021
    23. 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient AACE clinical case reports · 2022 · 1 citations
    24. Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy: Disorder of Sex Development 46, XY with Proximal Hypospadias Journal of Health, Medicine and Nursing · 2020
    25. Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism AACE clinical case reports · 2021
    26. 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
    27. Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene The Journal of Clinical Endocrinology & Metabolism · 2003 · 174 citations
    28. Steroidogenesis of the testis – new genes and pathways Annales d'endocrinologie · 2014 · 70 citations
    29. The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD) Advances in laboratory medicine · 2021
    30. SUN-069 A 14 Year Old Female with Primary Amenorrhea Journal of the Endocrine Society · 2020