Abstract
The study of genetic growth hormone (GH) insensitivity is an evolving field. GH insensitivity syndrome (GHIS), otherwise known as Laron syndrome, is a heterogeneous disorder. Biochemical features consist of severe insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) deficiency and elevated GH secretion. In a heterogeneous 'European' cohort of GHIS patients, features varied from classical to moderate abnormalities of phenotype and endocrine disturbance. A study of facial features within this series showed that a mild subgroup existed with normal facies, mild short stature and moderate biochemical abnormalities. Overlap with idiopathic short stature (ISS) exists, with heterozygous mutations of the GH receptor demonstrated to cause impaired growth. This 'partial' GHIS has not yet been defined endocrinologically. GH sensitivity, measured by IGF-I and IGFBP-3 responses in the IGF-I generation test, may reveal abnormalities in ISS, although it is likely that the dose of recombinant human GH and frequency of sampling in the test need to be modified.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 32-35 |
| Number of pages | 4 |
| Journal | Hormone Research |
| Volume | 55 |
| Issue number | SUPPL. 2 |
| DOIs | |
| State | Published - 2001 |
| Externally published | Yes |
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Keywords
- Growth hormone
- Growth hormone binding protein
- Growth hormone insensitivity syndrome
- Growth hormone receptor
- Insulin-like growth factor I
- Insulin-like growth hormone binding protein 3
ASJC Scopus subject areas
- Endocrinology
Cite this
Growth hormone insensitivity : Pathophysiology, diagnosis, clinical variation and future perspectives. / Savage, Martin O.; Burren, Christine P.; Blair, Joanne C.; Woods, Kathryn (Katie); Metherell, Louise; Clark, Adrian J L; Camacho-Hübner, Cecilia.
In: Hormone Research, Vol. 55, No. SUPPL. 2, 2001, p. 32-35.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Growth hormone insensitivity
T2 - Pathophysiology, diagnosis, clinical variation and future perspectives
AU - Savage, Martin O.
AU - Burren, Christine P.
AU - Blair, Joanne C.
AU - Woods, Kathryn (Katie)
AU - Metherell, Louise
AU - Clark, Adrian J L
AU - Camacho-Hübner, Cecilia
PY - 2001
Y1 - 2001
N2 - The study of genetic growth hormone (GH) insensitivity is an evolving field. GH insensitivity syndrome (GHIS), otherwise known as Laron syndrome, is a heterogeneous disorder. Biochemical features consist of severe insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) deficiency and elevated GH secretion. In a heterogeneous 'European' cohort of GHIS patients, features varied from classical to moderate abnormalities of phenotype and endocrine disturbance. A study of facial features within this series showed that a mild subgroup existed with normal facies, mild short stature and moderate biochemical abnormalities. Overlap with idiopathic short stature (ISS) exists, with heterozygous mutations of the GH receptor demonstrated to cause impaired growth. This 'partial' GHIS has not yet been defined endocrinologically. GH sensitivity, measured by IGF-I and IGFBP-3 responses in the IGF-I generation test, may reveal abnormalities in ISS, although it is likely that the dose of recombinant human GH and frequency of sampling in the test need to be modified.
AB - The study of genetic growth hormone (GH) insensitivity is an evolving field. GH insensitivity syndrome (GHIS), otherwise known as Laron syndrome, is a heterogeneous disorder. Biochemical features consist of severe insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) deficiency and elevated GH secretion. In a heterogeneous 'European' cohort of GHIS patients, features varied from classical to moderate abnormalities of phenotype and endocrine disturbance. A study of facial features within this series showed that a mild subgroup existed with normal facies, mild short stature and moderate biochemical abnormalities. Overlap with idiopathic short stature (ISS) exists, with heterozygous mutations of the GH receptor demonstrated to cause impaired growth. This 'partial' GHIS has not yet been defined endocrinologically. GH sensitivity, measured by IGF-I and IGFBP-3 responses in the IGF-I generation test, may reveal abnormalities in ISS, although it is likely that the dose of recombinant human GH and frequency of sampling in the test need to be modified.
KW - Growth hormone
KW - Growth hormone binding protein
KW - Growth hormone insensitivity syndrome
KW - Growth hormone receptor
KW - Insulin-like growth factor I
KW - Insulin-like growth hormone binding protein 3
UR - http://www.scopus.com/inward/record.url?scp=0035742079&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035742079&partnerID=8YFLogxK
U2 - 10.1159/000063471
DO - 10.1159/000063471
M3 - Article
C2 - 11684873
AN - SCOPUS:0035742079
VL - 55
SP - 32
EP - 35
JO - Hormone Research in Paediatrics
JF - Hormone Research in Paediatrics
SN - 1663-2818
IS - SUPPL. 2
ER -