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Normal sexual development is dependent on several activating, repressing, and genetic factors. Disorders of sexual development (DSDs) include a range of conditions that can affect the internal and external genital [21]. They may be recognised at birth as the phenotypical appearance may not be characteristic of either male or female. However, the problem can also present at a later stage with an increasing virilised appearance of the genitalia, delayed or absent puberty, or infertility. These patients must be managed in specialist centres by a multidisciplinary team for discussion of management and the timing of any surgical intervention [22]. There are ethical issues and patient opinion to be taken into account, and there are guidelines for referral to specialist paediatric endocrinology services for advice and management [23].

The classification of DSDs has been revised [24], and Table 1.2 shows the currently accepted method of categorising these conditions. Terms such as intersex and hermaphrodite are no longer acceptable.