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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

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

Editorial Board Member: 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

CiteScore 2016: 1.09

SCImago Journal Rank (SJR) 2016: 0.527
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Volume 23, Issue 8 (Jan 2010)


GHR and VDR Genes do not Contribute to the Growth Hormone (GH) Response in GH Deficient and Turner Syndrome Patients

Francisco Álvarez-Nava / Henry Marcano / Tatiana Pardo / Mariela Paoli / Peter Gunczler / Marisol Soto / Joalice Villalobos / Roberto Lanes
Published Online: 2010-09-17 | DOI: https://doi.org/10.1515/jpem.2010.127


We have prospectively assessed the influence of GHR and VDR gene polymorphisms on the response to rhGH therapy in Venezuelan children with growth hormone deficiency (GHD, n= 28) and Turner syndrome (TS, n= 25). Clinical data during rhGH treatment were compared in GH and TS patients with different genotypes. PCR amplifications were performed to obtain the genotype frequencies of the polymorphisms. Clinical data at the start of treatment and rhGH doses were indistinguishable among patients with GHD or TS with different GHR or VDR genotypes. After the first two years of rhGH treatment, clinical data in both GHD and TS patients were not different according GHR or VDR genotypes. In addition, there was no significant difference among the subjects when both these genotypes were combined. Gene polymorphisms in low penetrance genes do not contribute to the rhGH therapy response in patients with GHD and TS.

KEY WORDS: GHR and VDR polymorphisms; growth hormone deficiency; growth hormone therapy; Turner syndrome

About the article

Corresponding author: Francisco Álvarez-Nava,

Published Online: 2010-09-17

Published in Print: 2010-08-01

Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem.2010.127.

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