Disorders of sex development: Ramifications of the new nomenclature and classification system. Results of the Chicago Consensus Conference 2005

Disorders of sexual development encompass a heterogeneous group of congenital deviations formally subsumed under the heading "intersexuality" which affect the determination and differentiation of biological sex. This includes chromosomal as well as monogenic disorders which primarily inhibit genetic or endocrine pathways of normal sex development. However, in most patients, no definitive cause for the disorder can be found. Therefore, the birth of a child with ambiguous genitalia still represents an enormous challenge. In the interest of improving diagnostic procedures, supporting decisions regarding gender assignment as well as further developing therapeutic interventions a highly specialized team comprised of physicians from different subspecialties and experts on psychosocial issues is needed to counsel parents and patients. This article explains the new nomenclature and classification system as well as the steps involved in diagnosis and treatment decision making.