Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life

Endocr Rev. 2019 Dec 1;40(6):1547-1572. doi: 10.1210/er.2019-00049.


Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. Advances in the clinical care of patients and families affected by 46,XY DSD have been achieved since publication of the original Consensus meeting in 2006. The aims of this paper are to review what is known about morbidity and mortality, diagnostic tools and timing, sex of rearing, endocrine and surgical treatment, fertility and sexual function, and quality of life in people with 46,XY DSD. The role for interdisciplinary health care teams, importance of establishing a molecular diagnosis, and need for research collaborations using patient registries to better understand long-term outcomes of specific medical and surgical interventions are acknowledged and accepted. Topics that require further study include prevalence and incidence, understanding morbidity and mortality as these relate to specific etiologies underlying 46,XY DSD, appropriate and optimal options for genitoplasty, long-term quality of life, sexual function, involvement with intimate partners, and optimizing fertility potential.

Publication types

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

MeSH terms

  • Delivery of Health Care
  • Disorder of Sex Development, 46,XY / diagnosis
  • Disorder of Sex Development, 46,XY / epidemiology
  • Disorder of Sex Development, 46,XY / physiopathology
  • Disorder of Sex Development, 46,XY / therapy*
  • Fertility
  • Hormone Replacement Therapy
  • Humans
  • Sexual Behavior / physiology