Abstract
This chapter deals with genetic defects of female sexual differentiation and covers 46,XX disorders of sex development (DSD) and mosaicism or chimerism of the sex chromosomes which lead to gonadal dysgenesis or ovotesticular DSD. First, ovarian differentiation and typical female sexual development, including brain development, will be discussed. Conditions resulting from sex chromosomal mosaicism and chimerism and 46,XX (ovo)testicular DSD are extensively reviewed, with a focus on both etiology and clinical management. Subsequently, various causes of maternal and fetal androgen excess syndromes are reviewed. The syndromes characterized by aplasia or hypoplasia of the uterus and vagina form a separate entity within the 46,XX DSD category and are discussed thereafter. Finally we will summarize relevant points regarding the independent effects of genetic factors and sex steroids on brain and behavior.
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