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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-Nava , Henry Marcano , Tatiana Pardo , Mariela Paoli , Peter Gunczler , Marisol Soto , Joalice Villalobos and Roberto Lanes
Published/Copyright: September 17, 2010
Journal of Pediatric Endocrinology and Metabolism
From the journal Volume 23 Issue 8

ABSTRACT

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.


Corresponding author: Francisco Álvarez-Nava,

Published Online: 2010-09-17
Published in Print: 2010-August

© Freund Publishing House Ltd. 2010

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