Disorders of sex development

Abstract

Disorders of sex development (DSD) correspond to a dissociation between the chromosomal, gonadal and phenotypic sex. They require multidisciplinary management endocrine, pediatric and surgical with the essential involvement of genetic and endocrinology laboratories. Knowing the different stages of sexual differentiation and its determinants is essential to understanding the mechanisms of DSD. The etiological investigation based on the scrutiny of the genitals, emphasizing the gonads. Hormonal explorations in fact depend on the presence or absence of gonads on physical examination of the newborn. If the feminizing surgical correction is the decision recommended in case of masculinized girl (46XX DSD), the sex orientation poses difficulties when insufficiently boy masculinized (46XYDSD) and depend on the phenotype and etiology of the anomaly. Whatever the situation DSD is a medical and social emergency that requires accompanying parent.