Investigation and initial management of ambiguous genitalia

被引:52
作者
Ahmed, S. Faisal [1 ]
Rodie, Martina [1 ]
机构
[1] Univ Glasgow, Dept Child Hlth, Royal Hosp Sick Children, Glasgow G3 8SJ, Lanark, Scotland
基金
英国医学研究理事会;
关键词
DSD; evaluation; intersex; ANDROGEN INSENSITIVITY; INTERSEX PATIENTS; TESTOSTERONE; CLASSIFICATION; SENSITIVITY; ANOMALIES; BINDING;
D O I
10.1016/j.beem.2009.12.001
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Infants rarely present with truly ambiguous genitalia and such children should be evaluated by experts who work within a multidisciplinary team that is dedicated for evaluation and management of children and adults with suspected and confirmed disorders of sex development. The paediatric endocrinologist who is a vital and often the central member of this clinical team not only needs to lead the clinical evaluation of the infant systematically but also needs to be sensitive to the needs of the infant, the parents and the rest of the team. A thorough knowledge of the underlying pathophysiology and the strengths and weaknesses of the investigative tools that are available for reaching a diagnosis is crucial. (C) 2009 Elsevier Ltd. All rights reserved.
引用
收藏
页码:197 / 218
页数:22
相关论文
共 40 条
[31]   Vaginal reconstruction utilizing sigmoid colon: Complications and long-term results [J].
Parsons, JK ;
Gearhart, SL ;
Gearhart, JP .
JOURNAL OF PEDIATRIC SURGERY, 2002, 37 (04) :629-633
[32]   A high hypospadias rate in The Netherlands [J].
Pierik, FH ;
Burdorf, A ;
Nijman, JMR ;
Keizer-Schrama, SMPFD ;
Juttmann, RE ;
Weber, RFA .
HUMAN REPRODUCTION, 2002, 17 (04) :1112-1115
[33]   ANDROGEN RECEPTOR DEFECTS - HISTORICAL, CLINICAL, AND MOLECULAR PERSPECTIVES [J].
QUIGLEY, CA ;
DEBELLIS, A ;
MARSCHKE, KB ;
ELAWADY, MK ;
WILSON, EM ;
FRENCH, FS .
ENDOCRINE REVIEWS, 1995, 16 (03) :271-321
[34]   Divergence or disorder? The politics of naming intersex [J].
Reis, Elizabeth .
PERSPECTIVES IN BIOLOGY AND MEDICINE, 2007, 50 (04) :535-543
[35]   Evaluation of gonadal function in 107 intersex patients by means of serum antimullerian hormone measurement [J].
Rey, RA ;
Belville, C ;
Nihoul-Fékété, C ;
Michel-Calemard, L ;
Forest, MG ;
Lahlou, N ;
Jaubert, F ;
Mowszowicz, I ;
David, M ;
Saka, N ;
Bouvattier, C ;
Bertrand, AM ;
Lecointre, C ;
Soskin, S ;
Cabrol, S ;
Crosnier, H ;
Léger, J ;
Lortat-Jacob, S ;
Nicolino, M ;
Rabl, W ;
Toledo, SPA ;
Bas, F ;
Gompel, A ;
Czernichow, P ;
Chatelain, P ;
Rappaport, R ;
Morel, Y ;
Josso, N .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (02) :627-631
[36]  
Schutzmann K., 2007, ARCH SEX BEHAV, V38, P16
[37]  
Sinnecker GHG, 1997, EUR J PEDIATR, V156, P7
[38]   Mayer-Rokitansky-Kuster-Hauser syndrome: Recent clinical and genetic findings [J].
Sultan, Charles ;
Biason-Lauber, Anna ;
Philibert, Pascal .
GYNECOLOGICAL ENDOCRINOLOGY, 2009, 25 (01) :8-11
[39]   Epidemiology and initial management of ambiguous genitalia at birth in Germany [J].
Thyen, Ute ;
Lanz, Kathrin ;
Holterhus, Paul-Martin ;
Hiort, Olaf .
HORMONE RESEARCH, 2006, 66 (04) :195-203
[40]   Testosterone measurements in early infancy [J].
Tomlinson, C ;
Macintyre, H ;
Dorrian, CA ;
Ahmed, SF ;
Wallace, AM .
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 2004, 89 (06) :F558-F559