Affordable Access

[Short stature investigation: clinical, laboratorial and genetic aspects concerning the growth hormone insensitivity (GHI)].

Authors
  • Jorge, Alexander Augusto de Lima
Type
Published Article
Journal
Arquivos Brasileiros de Endocrinologia & Metabologia
Publisher
SciELO
Publication Date
Aug 01, 2008
Volume
52
Issue
6
Pages
1056–1065
Identifiers
PMID: 18820818
Source
Medline
License
Unknown

Abstract

It is reported in this study the clinical, laboratory and genetic aspects of short stature investigation with emphasis to the diagnostic approach of growth hormone insensitivity (GHI). This patient in case presented typical clinical features of GHI and his laboratory findings at prepubertal age were typical of those observed in GHI patients (low IGF-1 and IGFBP-3 levels, with high basal and stimulated GH levels). However, during the puberty, he presented normal IGFBP-3 and IGF-1 levels that hindered the diagnosis. The molecular study disclosed a mutation in exon 7 of growth hormone receptor gene (S226I). The steps that demonstrated the causative effect of this mutation are shown here, and also a review of Brazilian GHI cases is given and new molecular defects in this field are discussed as well.

Report this publication

Statistics

Seen <100 times