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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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    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
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