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Adequate comprehension of normal and abnormal sexual differentiation is essential to understanding DSDs.A summary of current knowledge regarding the embryology and classification of these conditions provides an appropriate introduction to the topic.The existence of patients with 46, XX testicular DSD, who have testicular tissue in the absence of an obvious Y chromosome or SRY genetic material, clearly requires other genetic explanations.

The ability to diagnose these conditions has advanced rapidly.In 2006, the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) published proposed changes to the previously used nomenclature and definitions of disorders in which the development of chromosomal, gonadal, or phenotypic sex is atypical.The rationale behind these proposals was to change the nomenclature to reflect advances in the understanding of the pathophysiology of these disorders while being sensitive to the needs and concerns of patients affected by them.Phenotypic sex determination begins with genetic sex and follows a logical cascade: Chromosomal sex determines gonadal sex, which determines phenotypic sex.The type of gonad present determines the differentiation/regression of the internal ducts (ie, müllerian and wolffian ducts) and ultimately determines the phenotypic sex.

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