Classification and presentation of disorders of sexual development (DSD)

The term DSD describes congenital conditions having atypical development of chromosomal, gonadal or anatomical sex, commonly presenting at birth or adolescence. Advances in understanding the molecular genetic causes of abnormal sexual development and heightened awareness of the ethical and patient-advocacy issues prompted in 2005 to classify these conditions forgoing terms like hermaphroditism and intersex. However, an all-inclusive classification accurately describing and separating individual conditions is still elusive given the overlap of some conditions and phenotypic variability. However, the utmost importance of making accurate diagnoses has resulted in several recent pragmatic approaches. Optimal patient management must be individualized and multidisciplinary.