Jump to ContentJump to Main Navigation
Show Summary Details
More options …

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 / Ogata, Tsutomu / Toppari, Jorma

12 Issues per year


IMPACT FACTOR 2017: 1.086

CiteScore 2017: 1.07

SCImago Journal Rank (SJR) 2017: 0.465
Source Normalized Impact per Paper (SNIP) 2017: 0.580

Online
ISSN
2191-0251
See all formats and pricing
More options …
Volume 23, Issue 4

Issues

Can Auxology, IGF-I and IGFBP-3 Measurements Followed by MRI and Genetic Tests Replace GH Stimulation Tests in the Diagnosis of GH Deficiency in Children?

Yardena Tenenbaum-Rakover
  • Corresponding author
  • Pediatric Endocrine Unit, Ha'Emek Medical Center, Afula 18101, Israel
  • Bruce and Ruth Rappaport School of Medicine, Technion, Haifa 31096, Israel
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Yasir Hujeirat / Osnat Admoni / Morad Khayat / Stavit Allon-Shalev
  • Bruce and Ruth Rappaport School of Medicine, Technion, Haifa 31096, Israel
  • Genetic Institute, Ha'Emek Medical Center, Afula 18101, Israel
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Ora Hess
  • Pediatric Endocrine Unit, Ha'Emek Medical Center, Afula 18101, Israel
  • Genetic Institute, Ha'Emek Medical Center, Afula 18101, Israel
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2010-09-17 | DOI: https://doi.org/10.1515/jpem.2010.060

ABSTRACT

Background/Aims: GH levels < 10 ng/ml in response to two different GH stimulation tests (GHSTs) are traditionally used to identify children with GH deficiency (GHD). Since GHSTs are imprecise, other diagnostic tools have been proposed. We assessed whether auxology, IGF-I and IGFBP-3 measurements followed by brain MRI and genetic analysis can replace the current diagnostic approach.

Methods: Fifty-three children diagnosed with GHD by two different GHSTs. GH-1 gene was sequenced.

Results: At presentation, 17% of patients were with height above -1.5 SD and 28% above -2.0 SD; 50% had IGF-1 concentration above -1.5 SD and 58% above -2.0 SD; 59% had pituitary anomalies demonstrated by MRI. Fourteen subjects harbored the heterozygous R183H mutation, one patient had the N47D mutation and one had a novel F25Y mutation in GH-1. Using cut-off levels of -1.5 SD for height, IGF-I and IGFBP-3 excluded the diagnosis of GHD in 17, 68 and 79% of the children, respectively; a cut-off of -2 SD excluded 28, 88 and 96%, respectively. Further brain MRI and genetic tests excluded 81-96% and 96-100%, respectively, of children currently diagnosed with GH.

Conclusion: Use of the tested approach, which avoids carrying out two GHSTs, would exclude most children currently diagnosed with GHD. Until better tools become available, we recommend identifying GHD in children by an integrated approach combining phenotype, auxological parameters, hormonal measurements and two separate GHSTs, with MRI and genetic tests to support the diagnosis.

KEY WORDS: GH deficiency; GH stimulation tests; IGF-I; IGFBP-3; MR imaging

About the article

Corresponding author: Dr Yardena Tenenbaum-Rakover,


Published Online: 2010-09-17

Published in Print: 2010-04-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 23, Issue 4, Pages 387–394, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem.2010.060.

Export Citation

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

[1]
Katharina Schilbach, Daniel S. Olsson, Margaret C.S. Boguszewski, Martin Bidlingmaier, Gudmundur Johannsson, and Jens-Otto Lunde Jørgensen
Growth Hormone & IGF Research, 2018
[2]
M. Maghnie, A. Lindberg, M. Koltowska-Haggstrom, and M. B. Ranke
European Journal of Endocrinology, 2013, Volume 168, Number 2, Page 211
[3]
Omar Ali and David Wyatt
Current Opinion in Endocrinology, Diabetes and Obesity, 2011, Volume 18, Number 1, Page 3

Comments (0)

Please log in or register to comment.
Log in