Growth hormone insensitivity

A. L. Rosenbloom, R. G. Rosenfeld, J. Guevara-Aguirre

Research output: Contribution to journalArticle

45 Scopus citations

Abstract

Growth hormone insensitivity (GHI) may be primary, caused by defects in the GH receptor, or further along the GH-insulin-like growth factor-I (IGF- I) axis, or secondary, resulting from a variety of illnesses or malnutrition affecting various steps in the pathway from the GH binding to IGF-I action. GH receptor deficiency, although rare, with only 229 cases reported, is the most common cause of primary GHI. Most patients are of Jewish, Arab, or other Mediterranean origin, the largest cohort being Catholics of Jewish origin coming from a small area in southern Ecuador, who account for one third of known cases. This large cohort has provided insight into the clinical features, growth characteristics, biochemical features, and effects of treatment with recombinant IGF-I. The Ecuadorian patients share a splice site mutation in the GH receptor gene with at least one Israeli patient of Iberian origin; 27 other mutations and a major deletion have been described in other affected patients.

Original languageEnglish (US)
Pages (from-to)423-442
Number of pages20
JournalPediatric clinics of North America
Volume44
Issue number2
DOIs
StatePublished - Jan 1 1997

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Rosenbloom, A. L., Rosenfeld, R. G., & Guevara-Aguirre, J. (1997). Growth hormone insensitivity. Pediatric clinics of North America, 44(2), 423-442. https://doi.org/10.1016/S0031-3955(05)70484-3