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    Glossary Disorders of Sex Development

    conditions where sex characteristics don't fit typical male or female categories

    Disorders of Sex Development (DSD) refer to a group of medical conditions where there is a discrepancy between an individual's chromosomal, gonadal, or anatomical sex. These conditions can result in atypical development of physical sex characteristics, such as ambiguous genitalia or differences in reproductive organs. DSDs can be identified at birth, during puberty, or later in life, and they often require a multidisciplinary approach for diagnosis and management, involving endocrinologists, geneticists, and psychologists.

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    1. Disorders of Sex Development Pediatrics in review · 2021 · 4 citations
    2. Physiology of Male Gonadotropic Axis and Disorders of Sex Development Springer eBooks · 2017
    3. 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
    4. 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
    5. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    6. 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
    7. (673) Seminoma in SRY-Negative 46, XX Testicular Disorder of Sex Development Presenting as Acute Abdomen: An Extremely Rare Case Report The Journal of Sexual Medicine · 2026
    8. The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD) Advances in laboratory medicine · 2021
    9. 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
    10. 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
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