Disorders of sex development: Currently recommended classification and new knowledge of gonadal maldevelopment
Abstract
The disorders of sex development occur in about 1:4,500 live born children. Their etiology is varied and not yet clearly understood.
As the knowledge increased the need of a new classification has become apparent and the nomenclature was recommended as a so called Chicago Consensus in 2005. Considerable attention is presently devoted to disorders in sex development, which are based on mutations of genes controlling gonadal development.
In the developing gonads about 200 genes are expressed; in ten of them the effects of pathogenic mutations or inadequate gene number copies on the human sexual development have already been described. A precise determination of molecular-genetic basis will make a more precise diagnosis possible as well as the elucidation of possible impact on subsequent sexual development and genetic risk for other members of the family.