IGF-I in human growth

Lessons from defects in the GH-IGF-I axis

Vivian Hwa, Peng Fang, Michael A. Derr, Eva Fiegerlova, Ronald (Ron) Rosenfeld

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

The IGF system plays a critical role in all phases of human growth, including intrauterine, childhood and pubertal. The importance of IGF-I for both in utero as well as postnatal human growth is highlighted by rare human homozygous IGF1 mutations, which are characterized by intrauterine growth retardation (IUGR), microcephaly, mental retardation and severe postnatal growth failure. Clinical conditions of IGF-I resistance due to mutations in the IGF-I receptor (IGFIR) similarly lead to IUGR and postnatal growth retardation. Postnatal regulation of IGF-I production is predominantly GH dependent. Defects in the GH-IGF-I axis, including mutations in the GHR, STAT5B and IGFALS genes, lead to postnatal IGF deficiency and GH insensitivity. Patients are of normal birth size but present with severe postnatal growth failure, despite normal or elevated levels of GH. Other phenotypic features-immune deficiency for STAT5B defects and insulin insensitivity for IGFALS defects-are of note. Mutations identified have been predominantly recessive. The identification and assessment of genetic defects in the GH-IGF axis has greatly enhanced our understanding of the critical importance of IGF-I in human linear growth. Continued evaluations will facilitate better diagnosis and management of children presenting with abnormal growth and development.

Original languageEnglish (US)
Pages (from-to)43-55
Number of pages13
JournalNestle Nutrition Institute Workshop Series
Volume71
DOIs
StatePublished - 2013

Fingerprint

human growth
insulin-like growth factor I
Insulin-Like Growth Factor I
growth retardation
mutation
Growth
Mutation
Fetal Growth Retardation
immunosuppression
genetic disorders
Microcephaly
IGF Type 1 Receptor
childhood
insulin resistance
Growth and Development
growth and development
Intellectual Disability
Parturition
Insulin
genes

ASJC Scopus subject areas

  • Food Science
  • Pediatrics, Perinatology, and Child Health
  • Nutrition and Dietetics
  • Medicine(all)

Cite this

IGF-I in human growth : Lessons from defects in the GH-IGF-I axis. / Hwa, Vivian; Fang, Peng; Derr, Michael A.; Fiegerlova, Eva; Rosenfeld, Ronald (Ron).

In: Nestle Nutrition Institute Workshop Series, Vol. 71, 2013, p. 43-55.

Research output: Contribution to journalArticle

Hwa, Vivian ; Fang, Peng ; Derr, Michael A. ; Fiegerlova, Eva ; Rosenfeld, Ronald (Ron). / IGF-I in human growth : Lessons from defects in the GH-IGF-I axis. In: Nestle Nutrition Institute Workshop Series. 2013 ; Vol. 71. pp. 43-55.
@article{cedf1c4c4a8846a08ecbc5c5a9f80d4c,
title = "IGF-I in human growth: Lessons from defects in the GH-IGF-I axis",
abstract = "The IGF system plays a critical role in all phases of human growth, including intrauterine, childhood and pubertal. The importance of IGF-I for both in utero as well as postnatal human growth is highlighted by rare human homozygous IGF1 mutations, which are characterized by intrauterine growth retardation (IUGR), microcephaly, mental retardation and severe postnatal growth failure. Clinical conditions of IGF-I resistance due to mutations in the IGF-I receptor (IGFIR) similarly lead to IUGR and postnatal growth retardation. Postnatal regulation of IGF-I production is predominantly GH dependent. Defects in the GH-IGF-I axis, including mutations in the GHR, STAT5B and IGFALS genes, lead to postnatal IGF deficiency and GH insensitivity. Patients are of normal birth size but present with severe postnatal growth failure, despite normal or elevated levels of GH. Other phenotypic features-immune deficiency for STAT5B defects and insulin insensitivity for IGFALS defects-are of note. Mutations identified have been predominantly recessive. The identification and assessment of genetic defects in the GH-IGF axis has greatly enhanced our understanding of the critical importance of IGF-I in human linear growth. Continued evaluations will facilitate better diagnosis and management of children presenting with abnormal growth and development.",
author = "Vivian Hwa and Peng Fang and Derr, {Michael A.} and Eva Fiegerlova and Rosenfeld, {Ronald (Ron)}",
year = "2013",
doi = "10.1159/000342548",
language = "English (US)",
volume = "71",
pages = "43--55",
journal = "Nestl{\'e} Nutrition Institute workshop series",
issn = "1664-2155",
publisher = "S. Karger AG",

}

TY - JOUR

T1 - IGF-I in human growth

T2 - Lessons from defects in the GH-IGF-I axis

AU - Hwa, Vivian

AU - Fang, Peng

AU - Derr, Michael A.

AU - Fiegerlova, Eva

AU - Rosenfeld, Ronald (Ron)

PY - 2013

Y1 - 2013

N2 - The IGF system plays a critical role in all phases of human growth, including intrauterine, childhood and pubertal. The importance of IGF-I for both in utero as well as postnatal human growth is highlighted by rare human homozygous IGF1 mutations, which are characterized by intrauterine growth retardation (IUGR), microcephaly, mental retardation and severe postnatal growth failure. Clinical conditions of IGF-I resistance due to mutations in the IGF-I receptor (IGFIR) similarly lead to IUGR and postnatal growth retardation. Postnatal regulation of IGF-I production is predominantly GH dependent. Defects in the GH-IGF-I axis, including mutations in the GHR, STAT5B and IGFALS genes, lead to postnatal IGF deficiency and GH insensitivity. Patients are of normal birth size but present with severe postnatal growth failure, despite normal or elevated levels of GH. Other phenotypic features-immune deficiency for STAT5B defects and insulin insensitivity for IGFALS defects-are of note. Mutations identified have been predominantly recessive. The identification and assessment of genetic defects in the GH-IGF axis has greatly enhanced our understanding of the critical importance of IGF-I in human linear growth. Continued evaluations will facilitate better diagnosis and management of children presenting with abnormal growth and development.

AB - The IGF system plays a critical role in all phases of human growth, including intrauterine, childhood and pubertal. The importance of IGF-I for both in utero as well as postnatal human growth is highlighted by rare human homozygous IGF1 mutations, which are characterized by intrauterine growth retardation (IUGR), microcephaly, mental retardation and severe postnatal growth failure. Clinical conditions of IGF-I resistance due to mutations in the IGF-I receptor (IGFIR) similarly lead to IUGR and postnatal growth retardation. Postnatal regulation of IGF-I production is predominantly GH dependent. Defects in the GH-IGF-I axis, including mutations in the GHR, STAT5B and IGFALS genes, lead to postnatal IGF deficiency and GH insensitivity. Patients are of normal birth size but present with severe postnatal growth failure, despite normal or elevated levels of GH. Other phenotypic features-immune deficiency for STAT5B defects and insulin insensitivity for IGFALS defects-are of note. Mutations identified have been predominantly recessive. The identification and assessment of genetic defects in the GH-IGF axis has greatly enhanced our understanding of the critical importance of IGF-I in human linear growth. Continued evaluations will facilitate better diagnosis and management of children presenting with abnormal growth and development.

UR - http://www.scopus.com/inward/record.url?scp=84886044699&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84886044699&partnerID=8YFLogxK

U2 - 10.1159/000342548

DO - 10.1159/000342548

M3 - Article

VL - 71

SP - 43

EP - 55

JO - Nestlé Nutrition Institute workshop series

JF - Nestlé Nutrition Institute workshop series

SN - 1664-2155

ER -