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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

Editorial Board: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

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IMPACT FACTOR 2016: 1.233

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2191-0251
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Volume 25, Issue 3-4 (Apr 2012)

Issues

The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency

Chang Guoying
  • Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Dong Zhiya
  • Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
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  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Wang Wei
  • Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Li Na
  • Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrinology and Metabolism, Shanghai Jiaotong University School of Medicine, Shanghai, China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Li Xiaoying
  • Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute of Endocrinology and Metabolism, Shanghai Jiaotong University School of Medicine, Shanghai, China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Xiao Yuan
  • Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Wang Defen
  • Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
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Published Online: 2012-02-15 | DOI: https://doi.org/10.1515/jpem-2011-0362

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

About the article

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


Received: 2011-07-25

Accepted: 2011-12-22

Published Online: 2012-02-15

Published in Print: 2012-04-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2011-0362.

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