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A new nomenclature has been developed to describe conditions formerly known as "intersex." In this new nomenclature, the designation, Disorders of Sex Development (DSDs), has been proposed to replace the word "intersex" and avoid the use of the term hermaphrodite.1,2 DSDs are defined as congenital conditions in which there is inconsistency between chromosomal, gonadal, and/or anatomical sex. This classification includes not only conditions with ambiguous external genitalia, but also those conditions without ambiguity in which there is atypical gonadal or sex chromosome development. This system (Table 8-1) allows the incorporation of new information and more precise diagnostic labeling. The primary clinical advantage is to be able to use information obtained early in diagnostic evaluation—particularly karyotype and phenotype—to guide further etiological evaluation and management.

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Table 8-1. Nomenclature: Disorders of Sex Differentiation 
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Diagnostic categories are listed in Table 8-2, but some conditions do not obviously fit into a single specific diagnostic category or may well fit into more than one category, such as forms of gonadal dysgenesis that may have a 46,XY, 46,XX, or 45,X/46,XY karyotype.

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Table 8-2. Examples of Diagnoses using DSD Classification1 

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