Genetic defects of female sexual differentiation
This chapter provides an outline of what is known about ovarian and female development. Specifically, the question is addressed if there are any known genes which are specifically required for differentiation of the bipotential gonads to become ovaries. In addition, defects in female differentiation as a result of sex chromosomal mosaicism are discussed. Subsequently, various causes of maternal and fetal androgen excess syndromes are reviewed as well as agenesis syndromes of uterus and vagina forming a separate entity within the 46,XX disorders of sex development category. Finally, relevant points regarding the independent effects of genetic factors and androgens on brain and behavior are summarized.
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|Organisation||Erasmus MC: University Medical Center Rotterdam|
Dessens, A.B, Cools, M.B.C.M, Richter-Unruh, A, Looijenga, L.H.J, Grootegoed, J.A, & Drop, S.L.S. (2010). Genetic defects of female sexual differentiation. doi:10.1016/B978-008088783-8.00101-7