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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Editorial Board Member: Darendeliler, Feyza / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Lanes M. D., Roberto / Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / LaFranchi, Stephen H. / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Wabitsch, Martin / Werther, George / Zadik, Zvi

12 Issues per year


IMPACT FACTOR 2013: 0.711

SCImago Journal Rank (SJR): 0.334
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The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency

Chang Guoying1 / 1 / Wang Wei1 / Li Na2 / Li Xiaoying2 / Xiao Yuan1 / Wang Defen1

1Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China

2Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrinology and Metabolism, Shanghai Jiaotong University School of Medicine, Shanghai, China

Corresponding author: Dong Zhiya, Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China Phone: +86-13482315662, Fax: +86-021-64376753

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 25, Issue 3-4, Pages 295–300, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem-2011-0362, February 2012

Publication History

Received:
2011-07-25
Accepted:
2011-12-22
Published Online:
2012-02-15

Abstract

Objectives: To analyze the clinical manifestations of primary adrenal insufficiency in Chinese boys, to investigate the prevalence of DAX1 and SF1 gene mutations, and to explore the association between gene mutations and clinical manifestations.

Subjects and methods: A total of 25 boys with primary adrenal insufficiency were enrolled. Mutational analysis of the DAX1 and SF1 genes was done by direct sequencing.

Results: DAX1 gene mutations were found in 40% (10 of 25) of 46,XY phenotypic boys referred with adrenal insufficiency, and six of these were novel. One SF1 gene mutation was identified. These patients demonstrated diverse clinical presentations. There was no definite association between clinical manifestations and genetic mutations.

Conclusions: DAX1 gene mutations are a relatively frequent cause of primary adrenal insufficiency. In contrast, mutation in the SF1 gene is seldom found. There is no definite relationship between gene mutations and clinical manifestations.

Keywords: adrenal insufficiency; children; DAX1 gene; mutation; primary; SF1 gene

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