Störungen der geschlechtsentwicklung: Theorie und praxis für den kinder- und jugendarzt

Disorders of sex development comprise a heterogeneous group of heritable abnormalities of sexual determination and differentiation, formerly termed »intersexuality«. This includes chromosomal as well as monogenic disorders, which inhibit primarily genetic or endocrine pathways of normal sex development. However, in most patients affected, no definitive cause for the disorder can be found. Therefore, the birth of a child with ambiguous genitalia still represents an enormous challenge. For the structuring of diagnostic procedures, for decision making and also for therapeutic interventions a highly specialized team of physicians of different subspecialties and of experts for psychosocial care is needed to counsel parents and patients accordingly. This manuscript shall explain the new nomenclature, the consecutive classification and steps for diagnosis and decision making.