Work

Growth Hormone Insensitivity Associated with a STAT5b Mutation

Year: 2003

Type: article

Study design: Case Report

Abstract: 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.

Source: New England Journal of Medicine

DOI: 10.1056/nejmoa022926

Authors: Eric M. Kofoed, Vivian Hwa, Brian Little, Katie A. Woods, Caroline K. Buckway, Junko Tsubaki, Katherine L. Pratt, Liliana Bezrodnik, Hector Jasper, Alejandro Tepper, Juan J. Heinrich, Ron G. Rosenfeld

Institutions: Oregon Health & Science University, Hospital General de Niños Ricardo Gutierrez, Lucile Packard Foundation for Childrens Health

Language: English

Topic: Growth Hormone and Insulin-like Growth Factors

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Cancer Institute

Award: Insulin-like Growth Factors and Prostate Carcinogenesis

OpenAlex ID: W1984828633

FWCI: 14.16

Cites: 29

Cited by: 533

Related to: 10