Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)

Clin Endocrinol (Oxf). 2016 May;84(5):771-88. doi: 10.1111/cen.12857. Epub 2015 Aug 13.


It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional DSD team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional team acts commonly as the first point of contact. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents have access to specialist psychological support and that their information needs are comprehensively addressed. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be performed should be discussed with the parents and affected young person and tests undertaken in a timely fashion. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration.

Publication types

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

MeSH terms

  • Adolescent
  • Child
  • Disorders of Sex Development / diagnosis*
  • Disorders of Sex Development / genetics
  • Disorders of Sex Development / psychology
  • Endocrinology*
  • Female
  • Genetics, Medical / methods
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Parents / psychology
  • Patient Care Team
  • Physician-Patient Relations
  • Practice Guidelines as Topic*
  • Social Support
  • Societies, Medical*
  • United Kingdom