UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development

被引：98

作者：

Ahmed, S. Faisal ^{[1
]}

Achermann, John C. ^{[2
]}

Arl, Wiebke ^{[3
]}

Balen, Adam H. ^{[4
]}

Conway, Gerry ^{[5
]}

Edwards, Zoe L. ^{[6
]}

Elford, Sue

Hughes, Ieuan A. ^{[7
]}

Izatt, Louise ^{[8
]}

Krone, Nils ^{[3
]}

Miles, Harriet L. ^{[7
]}

O'Toole, Stuart ^{[1
]}

Perry, Les ^{[9
]}

Sanders, Caroline ^{[10
]}

Simmonds, Margaret

Wallace, A. Michael ^{[11
]}

Watt, Andrew ^{[1
]}

Willis, Debbie ^{[12
]}

机构：

[1] Univ Glasgow, Royal Hosp Sick Children, Glasgow, Lanark, Scotland

[2] UCL, UCL Inst Child Hlth, London, England

[3] Univ Birmingham, Inst Biomed Res, Birmingham B15 2TT, W Midlands, England

[4] Leeds Teaching Hosp, Leeds Ctr Reproduct Med, Leeds, W Yorkshire, England

[5] Univ Coll London Hosp, Dept Endocrinol, London, England

[6] Alder Hey Childrens NHS Fdn Trust, Liverpool, Merseyside, England

[7] Univ Cambridge, Dept Paediat, Cambridge CB2 1TN, England

[8] Guys Hosp, Dept Clin Genet, London SE1 9RT, England

[9] Barts & London NHS Trust, Dept Clin Biochem, London, England

[10] Alder Hey NHS Fdn Trust, Dept Paediat Urol, Liverpool, Merseyside, England

[11] Glasgow Royal Infirm, Dept Biochem, Glasgow G4 0SF, Lanark, Scotland

[12] Soc Endocrinol, Bristol, Avon, England

来源：

CLINICAL ENDOCRINOLOGY | 2011年 / 75卷 / 01期

基金：

英国惠康基金;

关键词：

ANDROGEN INSENSITIVITY SYNDROME; ANTI-MULLERIAN HORMONE; AMBIGUOUS GENITALIA; DEVELOPMENT DSD; INTERSEX DISORDERS; TESTOSTERONE; MANAGEMENT; ANOMALIES; HYPOSPADIAS; IDENTIFICATION;

D O I：

10.1111/j.1365-2265.2011.04076.x

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

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 team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional DSD team acts as the first point of contact. 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. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents are as fully informed as possible and have access to specialist psychological support. 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.

引用

页码：12 / 26

页数：15

共 52 条

[1]

The European Disorder of Sex Development Registry: A Virtual Research Environment [J].