Startseite Estrogen receptor α gene analysis in girls with central precocious puberty
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Estrogen receptor α gene analysis in girls with central precocious puberty

  • Hae Sang Lee , Hong Kyu Park , Kyung Hee Kim , Jung Hee Ko , You Jin Kim , Kyung Hee Yi und Jin Soon Hwang EMAIL logo
Veröffentlicht/Copyright: 20. Juni 2012

Abstract

Objective: Estrogen is the final key factor that triggers the onset of puberty. The raised sensitivity of estrogen receptor, which may be caused by an estrogen receptor α (ERα) gene mutation or polymorphism, has been implicated in the etiology of precocious puberty. The aim of this study is to identify ERα gene mutations or polymorphisms in girls with central precocious puberty (CPP).

Methods: A total of 204 Korean girls with CPP were included in this study along with 102 healthy Korean female adults as controls. All coding exons and exon-intron boundaries of the ERα gene were sequenced. The relationship between identified sequence variations and CPP were evaluated via comparison of allele frequencies between the two groups.

Results: Eight polymorphisms were identified in the ERα gene. Among the eight polymorphisms in this study, five have been previously reported, whereas the other three were novel polymorphisms. Two of the three novel polymorphisms, p.G145S in exon 1 and p.R555H in exon 8 were only identified in the patient group. The subgroup with p.G145S showed a significantly higher level of peak luteinizing hormone than the subgroup without p.G145S in girls with CPP.

Conclusion: The scanning and typing of ERα polymorphism has uncovered several potentially meaningful polymorphisms. However, no solid conclusion can be made from this study and further studies are necessary to validate the function of these polymorphisms.


Corresponding author: Jin Soon Hwang, Department of Pediatrics, Ajou University School of Medicine, San 5, Wonchon-dong, Yeongtong-gu, Suwon 443-721, Korea Phone: +82-31-219-5166, Fax: +82-31-219-5169

This study was supported by a grant from the Abbott fund.

Conflict of interest statement

Authors’ conflict of interest disclosure: None of the authors have any conflict of interest to disclose. We confirm that we have read the position of the Journal of Pediatric Endocrinology and Metabolism on the issues involved in ethical publication and affirm that this report is consistent with those guidelines.

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Received: 2012-3-8
Accepted: 2012-4-27
Published Online: 2012-06-20
Published in Print: 2013-08-01

©2013 by Walter de Gruyter Berlin Boston

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