Abstract
Abnormalities of sex determination and differentiation comprise two major clinical groups: disorders of gonadal development (i.e., disorders of sex determination: sex reversal, true hermaphroditism), swith secondary effects on genital development, and defects of genital development in the presence of normal gonads (disorders of sex differentiation: male and female “pseudohermaphroditism”). This chapter will review the embryology of normal sex determination and differentiation, the genetic basis of normal and abnormal sex determination and differentiation, and the approaches to diagnosis of disorders of sex determination and differentiation.
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