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Roth, Christian

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 / 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

IMPACT FACTOR 2015: 0.912

SCImago Journal Rank (SJR) 2015: 0.493
Source Normalized Impact per Paper (SNIP) 2015: 0.600
Impact per Publication (IPP) 2015: 0.955

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

Francisco Álvarez-Nava1 / Henry Marcano2 / Tatiana Pardo1 / Mariela Paoli3 / Peter Gunczler4 / Marisol Soto1 / Joalice Villalobos5 / Roberto Lanes4

1Unidad de Genética Médica, Universidad del Zulia, Maracaibo, Venezuela

2Servicio de Endocrinología. Hospital de Niños “J.M. de Los Ríos”, Caracas, Venezuela

3Unidad de Endocrinología, Universidad de Los Andes, Mérida, Venezuela

4Unidad de Endocrinología Pediátrica, Hospital de Clínicas, Caracas, Venezuela

5Servicio de Endocrinología, Hospital de Especialidades Pediátricas, Maracaibo, Venezuela

Corresponding author: Francisco Álvarez-Nava,

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 23, Issue 8, Pages 773–782, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem.2010.127, September 2010

Publication History

Published Online:


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

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