Growth hormone insensitivity

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

doi:10.1016/S0031-3955(05)70484-3

Growth hormone insensitivity

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

Research output: Contribution to journal › Article › peer-review

46 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 language	English (US)
Pages (from-to)	423-442
Number of pages	20
Journal	Pediatric clinics of North America
Volume	44
Issue number	2
DOIs	https://doi.org/10.1016/S0031-3955(05)70484-3
State	Published - 1997
Externally published	Yes

Funding

Supported in part by grants from the March of Dimes Birth Defects Foundation, NIH grant DK-45830, the National Organization for Rare Disorders, Inc, and Pharmacia Peptide Hormones.

Funders	Funder number
Pharmacia Peptide Hormones
Author National Institutes of Health National Institutes of Health National Institutes of Health National Institutes of Health The Bev Hartig Huntington's Disease Foundation National Institutes of Health
National Institute of Diabetes and Digestive and Kidney Diseases	R01DK045830
March of Dimes Foundation
National Organization for Rare Disorders

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0031-3955(05)70484-3

Cite this

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title = "Growth hormone insensitivity",

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.",

author = "Rosenbloom, \{A. L.\} and Rosenfeld, \{R. G.\} and J. Guevara-Aguirre",

note = "Funding Information: Supported in part by grants from the March of Dimes Birth Defects Foundation, NIH grant DK-45830, the National Organization for Rare Disorders, Inc, and Pharmacia Peptide Hormones. ",

year = "1997",

doi = "10.1016/S0031-3955(05)70484-3",

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AU - Rosenbloom, A. L.

AU - Rosenfeld, R. G.

AU - Guevara-Aguirre, J.

N1 - Funding Information: Supported in part by grants from the March of Dimes Birth Defects Foundation, NIH grant DK-45830, the National Organization for Rare Disorders, Inc, and Pharmacia Peptide Hormones.

PY - 1997

Y1 - 1997

N2 - 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.

AB - 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.

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JF - Pediatric clinics of North America

IS - 2

ER -

Growth hormone insensitivity

Abstract

Funding

ASJC Scopus subject areas

Access to Document

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