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Abnormalities of sex differentiation or disorders of sexual development (DSD) are divided into two broad categories: (1) errors in (primary) sex determination, such as sex chromosome anomalies and gene mutations that interrupt or disrupt normal gonadogenesis, which lead to abnormalities of gonadogenesis, and (2) errors in sex differentiation that cause abnormal development of the somatic sex structures—the genital ducts, urogenital sinus, and external genitalia. Intrinsic or extrinsic factors that adversely affect any of the stages of these mechanisms can cause anomalies of sexual structure. Table 539-1 presents the consensus Classification of Disorders of Sex Development for clinical use. Older terminology used for classification (shown in parentheses in Table 539-1) have been abandoned and replaced by newer designations.1,2 The management approach to these disorders, including discussion of gender determination, is discussed in the final section of this chapter.

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Table 539-1. Classification of Disorders of Sex Development

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