Literature DB >> 24662318

Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short stature.

R Teissier1, I Flechtner1, A Colmenares1, K Lambot-Juhan1, G Baujat1, C Pauwels1, D Samara-Boustani1, J Beltrand1, A Simon1, C Thalassinos1, H Crosnier1, H Latrech1, G Pinto1, M Le Merrer1, V Cormier-Daire2, J C Souberbielle1, M Polak3.   

Abstract

OBJECTIVE: The prevalence of severe primary IGF1 deficiency (IGFD) is unclear. IGFD must be identified promptly as treatment with recombinant human IGF1 (rhIGF1) is now available. Our objective was to characterize and assess the prevalence of severe primary IGFD in a large cohort of patients evaluated for short stature at a pediatric endocrinology unit in France.
DESIGN: Observational study in a prospective cohort.
METHODS: Consecutive patients referred to our unit between 2004 and 2009 for suspected slow statural growth were included. Patients were classified into eight etiological categories. IGFD was defined by height ≤-3 SDS, serum IGF1 levels <2.5th percentile, GH sufficiency, and absence of causes of secondary IGFD.
RESULTS: Out of 2546 patients included, 337 (13.5%) were born small for gestational age and 424 (16.9%) had idiopathic short stature. In these two categories, we identified 30 patients who met our criterion for IGFD (30/2546, 1.2%). In these 30 patients, we assessed the response to IGF1 generation test, time course of IGF1 levels, and efficiency of GH replacement therapy. The results indicated that only four of the 30 children were definite or possible candidates for rhIGF1 replacement therapy.
CONCLUSION: The prevalence of severe primary IGFD defined using the standard criterion for rhIGF1 treatment was 1.2%, and only 0.2% of patients were eligible for rhIGF1 therapy.
© 2014 European Society of Endocrinology.

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Year:  2014        PMID: 24662318     DOI: 10.1530/EJE-14-0071

Source DB:  PubMed          Journal:  Eur J Endocrinol        ISSN: 0804-4643            Impact factor:   6.664


  4 in total

1.  Pubertal Timing and Growth Dynamics in Children With Severe Primary IGF-1 Deficiency: Results From the European Increlex® Growth Forum Database Registry.

Authors:  Peter Bang; Michel Polak; Valérie Perrot; Caroline Sert; Haris Shaikh; Joachim Woelfle
Journal:  Front Endocrinol (Lausanne)       Date:  2022-02-18       Impact factor: 5.555

2.  A synonymous mutation in IGF-1 impacts the transcription and translation process of gene expression.

Authors:  S Y Wang; Y Y Cheng; S C Liu; Y X Xu; Y Gao; C L Wang; Z G Wang; T Q Feng; G H Lu; J Song; P J Xia; L L Hao
Journal:  Mol Ther Nucleic Acids       Date:  2021-08-19       Impact factor: 8.886

3.  The Effect of Recombinant Growth Hormone Treatment in Children with Idiopathic Short Stature and Low Insulin-Like Growth Factor-1 Levels.

Authors:  Zeynep Şıklar; Pınar Kocaay; Emine Çamtosun; Mehmet İsakoca; Bülent Hacıhamdioğlu; Şenay Savaş Erdeve; Merih Berberoğlu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-12

4.  Significance of Direct Confirmation of Growth Hormone Insensitivity for the Diagnosis of Primary IGF-I Deficiency.

Authors:  Joanna Smyczyńska; Urszula Smyczyńska; Maciej Hilczer; Renata Stawerska; Andrzej Lewiński
Journal:  J Clin Med       Date:  2020-01-16       Impact factor: 4.241

  4 in total

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