Disorders of sex development

Abstract

A disorder of sex development occurs when there is discordance among the chromosomal, gonadal, and phenotypic determinants of the biological sex of a child. The differential diagnosis for disorders of sexual development is quite broad, so a systematic multidisciplinary approach is important. The diagnosis is also sometimes subtle-up to one half of boys with proximal hypospadias and cryptorchidism can have some form of the disorder. The most important initial physical finding is the presence and number of gonads palpable. In the immediate newborn period, all patients require a karyotype and laboratory evaluation, while an ultrasound should be the first imaging study obtained. There is a great deal of support available to children and their parents from others who have dealt with similar issues. Initial gender assignment can be extremely difficult and must be handled with a great deal of sensitivity.