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Article

Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction.

The Journal of clinical endocrinology and metabolism - 1 Mar 2004

Milward A, Metherell L, Maamra M, Barahona M J, Wilkinson I R, Camacho-Hübner C, Savage M O, Bidlingmaier M, Bidlingmaier C M, Clark A J L, Ross R J M, Webb S M

Abstract excerpt

Congenital GH insensitivity syndrome (GHIS) is usually the result of a mutation in the extracellular domain of the GH receptor (GHR). We report one of only a small number of mutations so far identified within the intracellular domain of the GHR. The probands are a 53-yr-old woman, height 114 cm (SD score, -8.7), peak GH 45 microg/liter during hypoglycemia, IGF-I 8.0 microg/liter [normal range (N) N 54-389], IGF...

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Share to Human Growth Hormone
Share to MAP Kinase Signaling System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Milk Proteins

Share to Prolactin

Share to Receptors, Somatotropin

Share to STAT3 Transcription Factor

Share to STAT5 Transcription Factor

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Source

Identifiers

PMID: 15001620
DOI: 10.1210/jc.2003-031418

Genes

GHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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