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

S Faisal Ahmed, John C Achermann, Wiebke Arlt, Adam Balen, Gerry Conway, Zoe Edwards, Sue Elford, Ieuan A Hughes, Louise Izatt, Nils Krone, Harriet Miles, Stuart O'Toole, Les Perry, Caroline Sanders, Margaret Simmonds, Andrew Watt, Debbie Willis

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99 Citations (Scopus)

Abstract

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.

Original languageEnglish
JournalClinical Endocrinology
DOIs
Publication statusPublished - 13 Aug 2015

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