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Published in: Pituitary 4/2012

01-12-2012

Isolated GHD: investigation and implication of JAK/STAT related genes before and after rhGH treatment

Authors: Letizia Trovato, Stefania Riccomagno, Flavia Prodam, Giulia Genoni, Gillian E. Walker, Stefania Moia, Simonetta Bellone, Gianni Bona

Published in: Pituitary | Issue 4/2012

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Abstract

Isolated GH deficiency (IGHD) is a rare disorder that occurs as an idiopathic form in most cases. The pathway JAK/STAT promotes cellular growth and it could be implicated in this condition. In order to characterize IGHD in the pediatric population and identify genes differently expressed before and after GH therapy, we performed a quantitative evaluation of 84 genes related to the JAK/STAT pathway which, by promoting cellular growth. RT2 Profiler PCR Array and the other/subsequent evaluations were performed in three children with severe IGHD before and after 6 months of GH therapy and in three matched normal children. Gene profiling was modified by the IGHD status and the GH therapy, with a modulation of GHR and some inflammatory genes such as CRP. We found a heterozygous nonsense mutation R43X in the GHR gene in two out of three IGHD subjects, despite a good response to therapy. After therapy cardiovascular markers linked to genes as IL6, IL8 and TNF-α displayed a trend toward reduction. Pre- and post therapy status differently affects gene expression. Mutational screening of GHR may be useful in investigating IGHD’s etiology. Genes linked to inflammation suggest to evaluate cardiovascular risks also in pediatric IGHD subjects.
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Metadata
Title
Isolated GHD: investigation and implication of JAK/STAT related genes before and after rhGH treatment
Authors
Letizia Trovato
Stefania Riccomagno
Flavia Prodam
Giulia Genoni
Gillian E. Walker
Stefania Moia
Simonetta Bellone
Gianni Bona
Publication date
01-12-2012
Publisher
Springer US
Published in
Pituitary / Issue 4/2012
Print ISSN: 1386-341X
Electronic ISSN: 1573-7403
DOI
https://doi.org/10.1007/s11102-011-0354-8

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