[HTML][HTML] Growth Hormone Insensitivity Associated with a STAT5b Mutation
EM Kofoed, V Hwa, B Little, KA Woods… - … England Journal of …, 2003 - Mass Medical Soc
EM Kofoed, V Hwa, B Little, KA Woods, CK Buckway, J Tsubaki, KL Pratt, L Bezrodnik…
New England Journal of Medicine, 2003•Mass Medical SocThis report documents that the syndrome of growth hormone insensitivity (severe short
stature, increased secretion of growth hormone, but low serum concentrations of insulin-like
growth factor I [IGF-I] and IGF–binding protein 3) in a teenage girl was due to a homozygous
missense mutation in the gene for STAT5b, an essential component of the actions of growth
hormone, as well as many other cytokine-induced functions.
stature, increased secretion of growth hormone, but low serum concentrations of insulin-like
growth factor I [IGF-I] and IGF–binding protein 3) in a teenage girl was due to a homozygous
missense mutation in the gene for STAT5b, an essential component of the actions of growth
hormone, as well as many other cytokine-induced functions.
This report documents that the syndrome of growth hormone insensitivity (severe short stature, increased secretion of growth hormone, but low serum concentrations of insulin-like growth factor I [IGF-I] and IGF–binding protein 3) in a teenage girl was due to a homozygous missense mutation in the gene for STAT5b, an essential component of the actions of growth hormone, as well as many other cytokine-induced functions.
The New England Journal Of Medicine