Holistic management of DSD

被引：78

作者：

Brain, Caroline E. ^{[2
]}

Creighton, Sarah M. ^{[3
]}

Mushtaq, Imran ^{[4
]}

Carmichael, Polly A. ^{[5
]}

Barnicoat, Angela ^{[6
]}

Honour, John W. ^{[7
]}

Larcher, Victor ^{[8
]}

Achermann, John C. ^{[1
]}

机构：

[1] UCL, Inst Child Hlth, Dev Endocrinol Res Grp, Clin & Mol Genet Unit, London WC1N 1EH, England

[2] Great Ormond St Hosp NHS Trust, Dept Endocrinol, London WC1N 3JN, England

[3] Univ Coll Hosp, Dept Womens Hlth, London NW1 2PG, England

[4] Great Ormond St Hosp NHS Trust, Dept Urol, London WC1N 3JN, England

[5] Great Ormond St Hosp NHS Trust, Dept Psychol, London WC1N 3JN, England

[6] Great Ormond St Hosp NHS Trust, Dept Clin Genet, London WC1N 3JN, England

[7] Univ Coll London Hosp, London W1T 4EU, England

[8] Great Ormond St Hosp NHS Trust, Dept Adolescent Med, London WC1N 3JN, England

来源：

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM | 2010年 / 24卷 / 02期

基金：

英国惠康基金;

关键词：

disorder of sex development (DSD); intersex; multidisciplinary team; congenital adrenal hyperplasia; gonadal dysgenesis; ambiguous genitalia; CONGENITAL ADRENAL-HYPERPLASIA; TANDEM MASS-SPECTROMETRY; SEX DEVELOPMENT; CONSENSUS STATEMENT; INTERSEX DISORDERS; STEROIDS; DIAGNOSIS; HORMONE; NEWBORN; PLASMA;

D O I：

10.1016/j.beem.2010.01.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Disorder of sex development (DSD) presents a unique challenge, both diagnostically and in terms of acute and longer-term management. These are relatively rare conditions usually requiring a multidisciplinary approach from the outset and the involvement of a tertiary centre for assessment and management recommendations. This article describes the structure of the multidisciplinary team (MDT) at our centre, with contributions from key members of the team regarding their individual roles. The focus is on the newborn referred for assessment of ambiguous genitalia, rather than on individuals who present in the adolescent period or at other times, although the same MDT involvement is likely to be required. The approach to the initial assessment and management is discussed and the subsequent diagnosis and follow-up presented, with emphasis on the importance of careful transition and long-term support. (C) 2010 Elsevier Ltd. All rights reserved.

引用

页码：335 / 354

页数：20

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