Differences of sex development in children and adolescents: Principles. diagnostics and management

Abstract

Disorders, variations or differences of sex development (DSD) describe a group of people with an innate discrepancy between chromosomal, gonadal and phenotypical sex. Diagnostics and management have undergone enormous changes in recent years. The clinical examination should follow standardized guidelines. New recommendations propagate genetic and endocrinological diagnostics in parallel. Therefore, the steps of investigations should be coordinated by a center of expertise, which is also responsible for the interpretation of the results. These are completed by imaging methods and where required invasive measures, mainly laparoscopy. Persons with DSD are in need of complex management. Therefore, the establishment of centers of expertise should in principle be advocated in order to ensure that procedures are in line with current recommendations. During and beyond medical treatment families and care seekers should receive psychological support.