Defects in growth hormone receptor signaling.

ROSENFELD RG,; BELGOROSKY, A; CAMACHO-HUBNER C,; SAVAGE MO,; WIT JM,; HWA V.,

Trends In Endocrinology And Metabolism

Elsevier Ltd.

Año: 2007 vol. 18 p. 134 - 141

1043-2760

Severe growth failure and insulin-like growth factor(IGF) deficiency were first reported 40 years ago inpatients who ultimately proved to have mutations inthe gene encoding the growth hormone receptor (GHR).So far, over 250 similar patients, encompassing morethan 60 different mutations of GHR, have been reported.The GHR is a member of the cytokine receptor superfamilyand has been shown to signal, at least in part,through the Janus-family tyrosine kinase?signal transducerand activator of transcription (JAK?STAT) pathway.Six patients, from five distinct families, have beenreported to have phenotypes similar to that of patientswith GHR defects but with wild-type receptors andhomozygosity for five different mutations of the STAT5bgene. These patients define a new cause of GH insensitivityand primary IGF deficiency and confirm the crucialrole of STAT5b in GH-mediated IGF-I gene transcription