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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, Fei Hong / Mericq, Veronica / Toppari, Jorma


IMPACT FACTOR 2018: 1.239

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2191-0251
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Volume 30, Issue 4

Issues

Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals

Xuefeng Chen
  • Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine, Hangzhou, P.R. China
  • Other articles by this author:
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/ Xiumin Wang
  • Corresponding author
  • Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine, 3333 binsheng road, Hangzhou 310051, P.R. China, Phone: +86-13957171024, Fax: +86-21-64085875
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Guanping Dong
  • Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine, Hangzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Junfen Fu
  • Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine, Hangzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Wei Wu
  • Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine, Hangzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Youjun Jiang
  • Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine, Hangzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2017-03-17 | DOI: https://doi.org/10.1515/jpem-2016-0341

Abstract

Background:

The clinical significance of pericentric inversion of chromosome 9 [inv (9)] remains unclear.

Methods:

This case control study assessed girls with short stature. According to karyotypes, the subjects were divided into inv (9) [46,XX,inv (9)(p12q13) and 46,XX,inv (9)(p11q13)], Turner syndrome (45, X) and control (normal 46, XX) groups, respectively. Detailed clinical features were compared.

Results:

Height standard deviation score (SDS) values at diagnosis were −2.51±0.58, −3.71±2.12 and −2.5±1.24 for inv (9), (45, X) and control groups, respectively (p=0.022). The inv (9) group showed lower body mass index (BMI) values compared with the (45, X) and control groups (F=5.097, p=0.008). Similar growth hormone deficiency (GHD) incidences were found in all groups. Interestingly, height SDS was positively correlated with mother height and patient BMI SDS (r=0.51, p=0.036; r=0.576, p=0.023, respectively) in the inv (9) group. In the (45, X) group, height SDS was positively correlated with birth weight (r=0.392, p=0.039).

Conclusions:

Short stature in inv (9) girls was correlated with low birth weight (LBW) and mother height.

Keywords: body mass index (BMI); growth hormone deficiency (GHD); pericentric inversion of chromosome 9 (inv 9); short stature; standard deviation score (SDS)

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About the article

Received: 2016-08-29

Accepted: 2017-01-09

Published Online: 2017-03-17

Published in Print: 2017-04-01


Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 30, Issue 4, Pages 431–436, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2016-0341.

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