作者
Kathryn Cox, Jillian Bryce, Jipu Jiang, Martina Rodie, Richard Sinnott, Mona Alkhawari, Wiebke Arlt, Laura Audi, Antonio Balsamo, Silvano Bertelloni, Martine Cools, Feyza Darendeliler, Stenvert Drop, Mona Ellaithi, Tulay Guran, Olaf Hiort, Paul-Martin Holterhus, Ieuan Hughes, Nils Krone, Lidka Lisa, Yves Morel, Olle Soder, Peter Wieacker, S Faisal Ahmed
发表日期
2014/2/1
期刊
The Journal of Clinical Endocrinology & Metabolism
卷号
99
期号
2
页码范围
E348-E355
出版商
Oxford University Press
简介
Context
The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.
Objective
To report the range of associated conditions identified in the international DSD (I-DSD) Registry.
Design, Setting, and Patients
Anonymized data were extracted from the I-DSD Registry for diagnosis, karyotype, sex of rearing, genetic investigations, and associated anomalies. If necessary, clarification was sought from the reporting clinician.
Results
Of 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions, and 14 (8%) had four or more conditions. Karyotypes with most frequently reported associations included 45,X …
学术搜索中的文章
K Cox, J Bryce, J Jiang, M Rodie, R Sinnott… - The Journal of Clinical Endocrinology & Metabolism, 2014
