Genetic Defects of Female Sexual Differentiation

    November 2016 in “ Elsevier eBooks
    Martine Cools
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    TLDR Genetic mutations can affect female sexual development, requiring personalized medical care.
    The document "Genetic Defects of Female Sexual Differentiation" reviewed various genetic and hormonal factors affecting female sexual differentiation, focusing on conditions like congenital adrenal hyperplasia (CAH), Turner syndrome, and disorders of sex development (DSD). It highlighted the roles of specific genes such as WT1, FOXL2, and WNT4 in ovarian development and sex determination. The research underscored the complexity of sexual differentiation, the impact of genetic mutations on sexual development, and the importance of personalized medical and psychological care for affected individuals. The document also discussed the clinical manifestations, long-term outcomes, and management strategies for these conditions, emphasizing the need for early diagnosis and multidisciplinary approaches to improve reproductive and psychosocial outcomes.
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