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Vol. 5, No. 3, 2011
Issue release date: June 2011
Section title: Original Article
Sex Dev 2011;5:103–108
(DOI:10.1159/000326815)

Factors That Influence the Decision to Perform a Karyotype in Suspected Disorders of Sex Development: Lessons from the Scottish Genital Anomaly Network Register

Rodie M.a · McGowan R.b · Mayo A.c · Midgley P.d · Driver C.P.e · Kinney M.e · Young D.f · Ahmed S.F.a
aDepartment of Child Health and bFerguson-Smith Centre for Clinical Genetics, Royal Hospital for Sick Children, Glasgow, cPaediatric Endocrinology, Royal Aberdeen Children’s Hospital, Aberdeen, dDepartment of Child Life and Health, University of Edinburgh, Edinburgh, eScottish Genital Anomaly Network Office, NHS Scotland, and fDepartment of Mathematics and Statistics, University of Strathclyde, Glasgow, UK

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Article / Publication Details

First-Page Preview
Abstract of Original Article

Accepted: 1/24/2011
Published online: 4/8/2011
Issue release date: June 2011

Number of Print Pages: 6
Number of Figures: 4
Number of Tables: 0

ISSN: 1661-5425 (Print)
eISSN: 1661-5433 (Online)

For additional information: http://www.karger.com/SXD

Abstract

Background: Although a karyotype represents the first objective evidence of investigating a case of suspected disorder of sex development (DSD), the factors that influence the clinician’s decision to initiate investigations are unclear. Methods: Cases of suspected DSD in Scotland were identified through the Scottish Genital Anomaly Network (SGAN) Register. The timing as well as other factors that influence the decision to perform a karyotype were subsequently studied. Results: Out of the 572 cases on the register, 383 (67%) were classified as having a non-specific disorder of under-masculinisation. In 463 (81%) cases, the sex of rearing was male, in 71 (12%) female, and in 38 (7%) cases data regarding sex of rearing were unavailable. A karyotype was reported to have been performed in 153/572 (27%) cases. Infants in Scotland with suspected DSD are more likely to have a karyotype performed in the presence of a low external masculinisation score, bilateral impalpable testes, proximal hypospadias, or associated malformations. Discussion: These data represent the first attempt at benchmarking the decision to check a karyotype and investigate infants with suspected DSD. Whilst this decision may be related to the complexity of the genital anomaly, there are other factors that may influence this decision, and these require further exploration through more rigorous systems for data collection.

© 2011 S. Karger AG, Basel


  

Author Contacts

Prof. S. Faisal Ahmed, MD, FRCPCH
Developmental Endocrinology Research Group
Royal Hospital For Sick Children, University of Glasgow
Glasgow G3 8SJ (UK)
Tel. +44 141 201 0571, E-Mail faisal.ahmed@glasgow.ac.uk

  

Article Information

Accepted: January 24, 2011
Published online: April 8, 2011
Number of Print Pages : 6
Number of Figures : 4, Number of Tables : 0, Number of References : 20

  

Publication Details

Sexual Development (Genetics, Molecular Biology, Evolut on, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation)

Vol. 5, No. 3, Year 2011 (Cover Date: June 2011)

Journal Editor: Schmid M. (Würzburg), Scherer G. (Freiburg), Schartl M. (Würzburg)
ISSN: 1661-5425 (Print), eISSN: 1661-5433 (Online)

For additional information: http://www.karger.com/SXD


Article / Publication Details

First-Page Preview
Abstract of Original Article

Accepted: 1/24/2011
Published online: 4/8/2011
Issue release date: June 2011

Number of Print Pages: 6
Number of Figures: 4
Number of Tables: 0

ISSN: 1661-5425 (Print)
eISSN: 1661-5433 (Online)

For additional information: http://www.karger.com/SXD


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