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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
    11. Supraphysiological Dose of Testosterone Impairs the Expression and Distribution of Sex Steroid Receptors during Endometrial Receptivity Development in Female Sprague–Dawley Rats International Journal of Molecular Sciences · 2024
    12. Steroid Hormones of Reproduction and Sexual Development Elsevier eBooks · 2017
    13. Development and evaluation of animal models for sex steroid deficient dry eye Journal of Pharmacological and Toxicological Methods · 2014 · 18 citations
    14. Fertility counseling and preservation: considerations for the pediatric endocrinologist Translational pediatrics · 2017 · 9 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 Teenage Girl with Unexpected Pubertal Changes Clinical chemistry · 2018 · 1 citations
    17. 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
    18. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    19. Biochemical and Structural Characteristics, Gene Regulation, Physiological, Pathological and Clinical Features of Lipocalin-Type Prostaglandin D2 Synthase as a Multifunctional Lipocalin Frontiers in Physiology · 2021 · 18 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. Sex hormones and acne Clinics in dermatology · 2016 · 76 citations
    22. The diversity of sex development: What do conditions affecting sex development teach us about sexual diversity? Physiology News · 2021
    23. 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
    24. Dermatologic care of patients with differences of sex development International Journal of Women’s Dermatology · 2023 · 1 citations
    25. Sex-dependent effect of a low neurosteroid environment and intrauterine growth restriction on fetal guinea pig brain development. Journal of Endocrinology · 2010 · 63 citations
    26. Hydroxysteroid Dehydrogenase (17β -HSD3, 17β-HSD5, and 3α-HSD3) Inhibitors:Extragonadal Regulation of Intracellular Sex Steroid Hormone Levels Recent Patents on Endocrine, Metabolic & Immune Drug Discovery · 2007 · 20 citations
    27. Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment Brain & development · 2006 · 18 citations
    28. Effects of Hormones and Endocrine Disorders on Hair Growth Cureus · 2022
    29. Testosterone Hormone ; Clinical Indications, Dysregulation and Therapeutic methods ˜Al-œAmeed journal for medical research and health sciences · 2024
    30. Precocious Puberty Pediatrics in review · 2000 · 2 citations