Management of disorders of sex development

Nat Rev Endocrinol. 2014 Sep;10(9):520-9. doi: 10.1038/nrendo.2014.108. Epub 2014 Jul 15.


The medical term disorders of sex development (DSDs) is used to describe individuals with an atypical composition of chromosomal, gonadal and phenotypic sex, which leads to differences in the development of the urogenital tract and reproductive system. A variety of genetic factors have been identified that affect sex development during gonadal differentiation or in specific disorders associated with altered androgen biosynthesis or action. The diagnosis of DSDs in individuals and the subsequent management of patients and their families requires a targeted and structured approach, involving a multidisciplinary team with effective communication between the disciplines. This approach includes distinct clinical, imaging, laboratory and genetic evaluations of patients with DSDs. Although treatment of patients with DSDs can include endocrine and surgical options, many patients have concerns that arise from past incorrect treatments that were founded on the traditional binary concept of the sexes. To dispel these concerns, it is necessary to create centres of expertise for DSDs that include physicians, surgeons, psychologists and specialists in diagnostic procedures to manage patients and their families. Additionally, the inclusion of trained peer support in the multidisciplinary DSD team seems to be integral to the supportive management of patients with DSDs. Most importantly, dealing with DSDs requires acceptance of the fact that deviation from the traditional definitions of gender is not necessarily pathologic.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Child, Preschool
  • Disorders of Sex Development* / diagnosis
  • Disorders of Sex Development* / genetics
  • Disorders of Sex Development* / therapy
  • Gonadal Steroid Hormones / analysis
  • Humans
  • Infant
  • Karyotype
  • Patient Care Team
  • Sexual Development


  • Gonadal Steroid Hormones