Defects in growth hormone receptor signaling

Ron G. Rosenfeld, Alicia Belgorosky, Cecelia Camacho-Hubner, M. O. Savage, J. M. Wit, Vivian Hwa

Research output: Contribution to journalArticle

113 Scopus citations


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

Original languageEnglish (US)
Pages (from-to)134-141
Number of pages8
JournalTrends in Endocrinology and Metabolism
Issue number4
StatePublished - May 1 2007

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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    Rosenfeld, R. G., Belgorosky, A., Camacho-Hubner, C., Savage, M. O., Wit, J. M., & Hwa, V. (2007). Defects in growth hormone receptor signaling. Trends in Endocrinology and Metabolism, 18(4), 134-141.