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    Glossary Ambiguous Genitalia

    condition where newborn's genitalia are not clearly male or female

    Ambiguous Genitalia, also known as Indeterminate Genitalia or Atypical Genitalia, refers to a condition where a newborn's external genitalia do not appear clearly male or female. This can result from various genetic, hormonal, or developmental factors and often requires medical evaluation to determine the underlying cause and appropriate management.

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    Research 30 of 539

    1. 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report Journal of Advances in Internal Medicine · 2021
    2. 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria JCEM Case Reports · 2024 · 1 citations
    3. Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role Journal of Steroid Biochemistry · 1983 · 98 citations
    4. 46,XY DSD due to impaired androgen production 2010 · 54 citations
    5. 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population. PubMed · 2006 · 46 citations
    6. Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism The Journal of Steroid Biochemistry and Molecular Biology · 1992 · 46 citations
    7. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    8. Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance Hormones · 2016 · 15 citations
    9. Disorders of Sex Development Pediatrics in review · 2021 · 4 citations
    10. Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature Frontiers in genetics · 2022 · 2 citations
    11. Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report Curēus · 2022 · 1 citations
    12. 5-Alpha-reductase deficiency in a Saudi "girl" Postgraduate medical journal · 1995 · 1 citations
    13. (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
    14. 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
    15. Genetics and Pathophysiology of Congenital Adrenal Hyperplasia Contemporary Endocrinology · 2017
    16. The articulations of Adam's rib with the lower urinary tract Kidney international · 1984
    17. MALE PSEUDOHERMAPHRODITISM DUE TO 17β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY: STUDIES ON THE NATURAL HISTORY OF THE DEFECT AND EFFECT OF ANDROGENS ON GENDER ROLE Elsevier eBooks · 1983
    18. Mister XX Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma · 2016 · 1 citations
    19. Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene 2002 · 94 citations
    20. Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome Endocrine journal · 2008 · 3 citations
    21. Disorders in Male Sexual Differentiation Due to 5α-Reductase-2 Deficiency Elsevier eBooks · 2018
    22. The 5 Alpha-Reductase Isozyme Family: A Review of Basic Biology and Their Role in Human Diseases Advances in Urology · 2011 · 218 citations
    23. 9 Role of 5α-reductase in health and disease Baillière's clinical endocrinology and metabolism · 1994 · 101 citations
    24. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    25. Natural potent androgens: Lessons from human genetic models Baillière s Clinical Endocrinology and Metabolism · 1998 · 60 citations
    26. A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review Zhonghua neifenmi daixie zazhi · 2017 · 1 citations
    27. Regulation of masculinization: androgen signalling for external genitalia development Nature Reviews Urology · 2018 · 45 citations
    28. Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing. Endocrine Journal · 1997 · 9 citations
    29. Dermatoses of pregnancy Journal of The American Academy of Dermatology · 2001 · 208 citations
    30. Effects of finasteride, a type 2 5-alpha reductase inhibitor, on fetal development in the rhesus monkey (Macaca mulatta) Teratology · 1997 · 67 citations