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Partial growth hormone insensitivity ‐ idiopathic short stature is not always idiopathic
Author(s) -
Saenger P
Publication year - 1999
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1999.tb14390.x
Subject(s) - growth hormone receptor , growth hormone binding protein , endocrinology , idiopathic short stature , medicine , short stature , growth hormone , heterozygote advantage , growth factor , receptor , hormone , gene , biology , genotype , genetics
Saenger P. Partial growth hormone insensitivity ‐ idiopathic short stature is not always idiopathic. Acta Pædiatr 1999; Suppl 428: 194–8. Stockholm. ISSN 0803–5326 Heterozygous growth hormone receptor (GHR) gene defects are not a common cause of idiopathic short stature. Although some of these GHR mutations may result in relative insensitivity to growth hormone (GH) in other studies, obligate heterozygotes did not present any clinical manifestations. Although patients with GH insensitivity and elevated GH binding protein (GHBP) levels have been described, it may be a reasonable approach to screen children who have growth failure, low levels of insulin‐like growth factor‐I (IGF‐I) and IGF‐binding protein‐3, and low levels of GHBP. Whether the sensitivity of this screening approach can be increased by administering pharmacological doses of GH for a few days and measuring the resultant increase in serum IGF‐I concentration remains to be determined by ongoing studies. □ Growth hormone insensitivity, growth hormone receptor, short stature