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    1. 46,XY DSD due to impaired androgen production 2010 · 54 citations
    2. 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
    3. 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
    4. Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development Seminars in reproductive medicine · 2012 · 46 citations
    5. 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
    6. The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD) Advances in laboratory medicine · 2021
    7. 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report Journal of Advances in Internal Medicine · 2021
    8. Disorders of Sex Development Pediatrics in review · 2021 · 4 citations
    9. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    10. A Teenage Girl with Unexpected Pubertal Changes Clinical chemistry · 2018 · 1 citations
    11. 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
    12. 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
    13. 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
    14. Steroidogenesis of the testis – new genes and pathways Annales d'endocrinologie · 2014 · 70 citations
    15. Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome Steroids · 2019 · 1 citations
    16. A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome AACE Clinical Case Reports · 2015 · 1 citations
    17. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    18. Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty Endocrine journal · 2022
    19. Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome Journal of pediatric & adolescent gynecology · 2019 · 1 citations
    20. 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
    21. Dermatologic care of patients with differences of sex development International Journal of Women’s Dermatology · 2023 · 1 citations
    22. Physiology of Male Gonadotropic Axis and Disorders of Sex Development Springer eBooks · 2017
    23. Fertility counseling and preservation: considerations for the pediatric endocrinologist Translational pediatrics · 2017 · 9 citations
    24. E-Poster Indian Journal of Endocrinology and Metabolism · 2023
    25. Compound glycyrrhizin promotes hair growth in C57BL/6 mice by regulating the Wnt/β-catenin pathway Dermatologica Sinica · 2025
    26. Current understanding and treatment of sex hormone-related hair diseases Dermatologica Sinica · 2023
    27. Hair follicle-derived epithelial sheet has potential in vitiligo treatment medRxiv · 2026
    28. Effect of decellularisation methods on methacryloyl-substituted placental ECM hydrogels 2020
    29. Modelling androgen synthesis and action during human sexual differentiation ePrints Soton (University of Southampton) · 2010
    30. An isotope dilution-liquid chromatography-tandem mass spectrometry-based candidate reference measurement procedure for the quantification of 5-alpha-dihydrotestosterone in human serum and plasma Clinical Chemistry and Laboratory Medicine (CCLM) · 2026