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

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

Author information

1
School of Medicine, University of Glasgow, Glasgow, UK.
2
Developmental Endocrinology Research Group, University College London Institute of Child Health, London, UK.
3
Centre for Endocrinology, Diabetes and Metabolism, University of Birmingham Medical School, Birmingham, UK.
4
Department of Obstetrics and Gynaecology, Leeds Teaching Hospitals, Leeds, UK.
5
Department of Endocrinology, The Middlesex Hospital, London, UK.
6
Psychological Services (Paediatrics), Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
7
CAH Support group, CLIMB, Crewe, UK.
8
Paediatrics, University of Cambridge, Cambridge, UK.
9
Clinical Genetics Department, Guy's Hospital, London, UK.
10
Division of Medical Sciences, University of Birmingham, Birmingham, UK.
11
Endocrinology, NHS Lothian, Edinburgh, UK.
12
Department of Paediatric Surgery, Royal Hospital for Sick Children, Glasgow, UK.
13
Clinical Biochemistry, St Bartholomew's Hospital, London, UK.
14
Paediatric Urology & Gynaecology, Alderhey Children's NHS Foundation Trust, Liverpool, UK.
15
Support Group, AISSG, UK.
16
Diagnostic Imaging, Royal Hospital for Sick Children, Glasgow, UK.
17
Society Services, Society for Endocrinology, Bristol, UK.

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.

PMID:
26270788
PMCID:
PMC4855619
DOI:
10.1111/cen.12857
[Indexed for MEDLINE]
Free PMC Article

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