ea0005p70 | Cytokines and Growth Factors | BES2003
Milward A
, Metherell L
, Maamra M
, Wilkinson I
, Camacho-Hubner C
, Savage M
, Ross R
, Clark A
, Webb S
Background: The majority of patients with GH insensitivity have defects in the extracellular domain of the GHR. We have identified a 47yr old woman homozygous for a 22bp deletion in the cytoplasmic domain of the GHR. The patient had high GH levels, and low IGF-1 of 8 ug/L (normal 54-389 ug/L), IGFBP-3 16nmol/L (normal 61-254 nmol/L) and GHBP 6.8 percent (normal greater than 10 percent) levels. We report functional studies for this mutation (GHR1-449) which results in premature...