Abstract
Growth hormone insensitivity syndrome (GHIS) of genetic origin is associated with many different mutations of the growth hormone receptor (GHR) gene and a recently described genetic defect of the insulin-like growth factor I (IGF-I) gene. Phenotypic and biochemical features were examined in a cohort of 82 patients with GHIS from 23 countries. The mean age of these patients was 8.3 years, their mean height SDS was -6.09 and their median IGF- binding protein-3 (IGFBP-3) SDS was -8.5. In total, 19 of the 82 patients (23%) were growth hormone-binding protein (GHBP)-positive (> 10%). The mean heights in GHBP-negative and CHBP-positive patients were -6.45 SDS and -4.89 SDS, respectively (p < 0.001). Sixteen different GHR gene mutations were identified in 27 patients with GHIS. All of these patients had homozygous mutations, except one who had a compound heterozygous mutation. There was no relationship between the type or site within the GHR gene of the mutation and the height SDS or IGFBP-3 SDS of the patients. GHIS is associated with a wide variation in the severity of clinical and biochemical phenotypes. This variation cannot clearly be accounted for by defects: in the GHR gene alone. Other genes or environmental factors must contribute to the control of growth in patients with GHIS.
Original language | English (US) |
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Pages (from-to) | 158-162 |
Number of pages | 5 |
Journal | Acta Paediatrica, International Journal of Paediatrics, Supplement |
Volume | 88 |
Issue number | 428 |
State | Published - Jan 1 1999 |
Keywords
- Growth hormone
- Growth hormone insensitivity
- Growth hormone receptor gene
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health