Defects in growth hormone receptor signaling

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

Research output: Contribution to journalArticle

111 Citations (Scopus)

Abstract

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
Volume18
Issue number4
DOIs
StatePublished - May 2007
Externally publishedYes

Fingerprint

Laron Syndrome
Somatotropin Receptors
Somatomedins
Mutation
Genes
Cytokine Receptors
Transducers
Insulin-Like Growth Factor I
Protein-Tyrosine Kinases
Phenotype
Growth

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Rosenfeld, R. R., 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. https://doi.org/10.1016/j.tem.2007.03.004

Defects in growth hormone receptor signaling. / Rosenfeld, Ronald (Ron); Belgorosky, Alicia; Camacho-Hubner, Cecelia; Savage, M. O.; Wit, J. M.; Hwa, Vivian.

In: Trends in Endocrinology and Metabolism, Vol. 18, No. 4, 05.2007, p. 134-141.

Research output: Contribution to journalArticle

Rosenfeld, RR, Belgorosky, A, Camacho-Hubner, C, Savage, MO, Wit, JM & Hwa, V 2007, 'Defects in growth hormone receptor signaling', Trends in Endocrinology and Metabolism, vol. 18, no. 4, pp. 134-141. https://doi.org/10.1016/j.tem.2007.03.004
Rosenfeld RR, Belgorosky A, Camacho-Hubner C, Savage MO, Wit JM, Hwa V. Defects in growth hormone receptor signaling. Trends in Endocrinology and Metabolism. 2007 May;18(4):134-141. https://doi.org/10.1016/j.tem.2007.03.004
Rosenfeld, Ronald (Ron) ; Belgorosky, Alicia ; Camacho-Hubner, Cecelia ; Savage, M. O. ; Wit, J. M. ; Hwa, Vivian. / Defects in growth hormone receptor signaling. In: Trends in Endocrinology and Metabolism. 2007 ; Vol. 18, No. 4. pp. 134-141.
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