Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).
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.
School of Medicine, University of Glasgow, Glasgow, UK.
S Faisal
SF
Ahmed
Developmental Endocrinology Research Group, University College London Institute of Child Health, London, UK.
John C
JC
Achermann
Centre for Endocrinology, Diabetes and Metabolism, University of Birmingham Medical School, Birmingham, UK.
Wiebke
W
Arlt
Department of Obstetrics and Gynaecology, Leeds Teaching Hospitals, Leeds, UK.
Adam
A
Balen
Department of Endocrinology, The Middlesex Hospital, London, UK.
Gerry
G
Conway
Psychological Services (Paediatrics), Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
Zoe
Z
Edwards
CAH Support group, CLIMB, Crewe, UK.
Sue
S
Elford
Paediatrics, University of Cambridge, Cambridge, UK.
Ieuan A
IA
Hughes
Clinical Genetics Department, Guy's Hospital, London, UK.
Louise
L
Izatt
Division of Medical Sciences, University of Birmingham, Birmingham, UK.
Nils
N
Krone
Endocrinology, NHS Lothian, Edinburgh, UK.
Harriet
H
Miles
Department of Paediatric Surgery, Royal Hospital for Sick Children, Glasgow, UK.
Stuart
S
O'Toole
Clinical Biochemistry, St Bartholomew's Hospital, London, UK.
Les
L
Perry
Paediatric Urology & Gynaecology, Alderhey Children's NHS Foundation Trust, Liverpool, UK.
Caroline
C
Sanders
Support Group, AISSG, UK.
Margaret
M
Simmonds
Diagnostic Imaging, Royal Hospital for Sick Children, Glasgow, UK.
Andrew
A
Watt
Society Services, Society for Endocrinology, Bristol, UK.
Debbie
D
Willis
D000293:Adolescent; D002648:Child; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D004704:Endocrinology; D005260:Female; D005826:Genetics, Medical / Q000379:methods; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010290:Parents / Q000523:psychology; D010348:Patient Care Team; D010817:Physician-Patient Relations; D017410:Practice Guidelines as Topic; D012944:Social Support; D012955:Societies, Medical; D006113:United Kingdom