Genetic Diagnosis of Growth Failure

Ronald (Ron) Rosenfeld, Vivian Hwa

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

This chapter focuses on genetic defects associated with growth disorder. It explores the genetic abnormalities of the growth hormone-insulin-like growth factor axis as well as the defects of growth hormone receptor (GHR). The disturbances in each of two hormonal systems may result in growth failure. Chronic hypothyroidism, either primary or secondary can lead to severe stunting of growth in children and growth hormone (GH) deficiency on either a hypothalamic or pituitary basis can result in dramatic postnatal growth failure. The genetic pathophysiology of growth failure involve mutations or deletions of GHR genes and nearly 70 mutations of GHR is reported including missense, nonsense, frameshift and splicing defects. Mutation of IGF1R genes results in dramatic intrauterine growth retardation in animal studies, but no homozygous mutations of IGF1R have been reported in humans. The diagnosis, genetic testing and interpretation, prenatal testing are further discussed. Since majority of the disorders described are transmitted in an autosomal recessive manner, it should be amenable to prenatal testing.

Original languageEnglish (US)
Title of host publicationGenetic Diagnosis of Endocrine Disorders
PublisherElsevier Inc.
ISBN (Print)9780123744302
DOIs
StatePublished - 2010

Fingerprint

Growth Disorders
Somatotropin Receptors
Growth
Mutation
Growth Hormone
Laron Syndrome
Fetal Growth Retardation
Sequence Deletion
Genetic Testing
Somatomedins
Hypothyroidism
Genes

Keywords

  • Acid labile subunit (ALS)
  • Growth
  • Growth hormone (GH)
  • IGF-I receptor (IGF1R)
  • Insulin-like growth factor (IGF)
  • Signal transducer and activator of transcription (STAT)

ASJC Scopus subject areas

  • Dentistry(all)
  • Medicine(all)

Cite this

Rosenfeld, R. R., & Hwa, V. (2010). Genetic Diagnosis of Growth Failure. In Genetic Diagnosis of Endocrine Disorders Elsevier Inc.. https://doi.org/10.1016/B978-0-12-374430-2.00025-0

Genetic Diagnosis of Growth Failure. / Rosenfeld, Ronald (Ron); Hwa, Vivian.

Genetic Diagnosis of Endocrine Disorders. Elsevier Inc., 2010.

Research output: Chapter in Book/Report/Conference proceedingChapter

Rosenfeld, RR & Hwa, V 2010, Genetic Diagnosis of Growth Failure. in Genetic Diagnosis of Endocrine Disorders. Elsevier Inc. https://doi.org/10.1016/B978-0-12-374430-2.00025-0
Rosenfeld RR, Hwa V. Genetic Diagnosis of Growth Failure. In Genetic Diagnosis of Endocrine Disorders. Elsevier Inc. 2010 https://doi.org/10.1016/B978-0-12-374430-2.00025-0
Rosenfeld, Ronald (Ron) ; Hwa, Vivian. / Genetic Diagnosis of Growth Failure. Genetic Diagnosis of Endocrine Disorders. Elsevier Inc., 2010.
@inbook{ddcf68b2dbbc476cbf6cde6d93d90edf,
title = "Genetic Diagnosis of Growth Failure",
abstract = "This chapter focuses on genetic defects associated with growth disorder. It explores the genetic abnormalities of the growth hormone-insulin-like growth factor axis as well as the defects of growth hormone receptor (GHR). The disturbances in each of two hormonal systems may result in growth failure. Chronic hypothyroidism, either primary or secondary can lead to severe stunting of growth in children and growth hormone (GH) deficiency on either a hypothalamic or pituitary basis can result in dramatic postnatal growth failure. The genetic pathophysiology of growth failure involve mutations or deletions of GHR genes and nearly 70 mutations of GHR is reported including missense, nonsense, frameshift and splicing defects. Mutation of IGF1R genes results in dramatic intrauterine growth retardation in animal studies, but no homozygous mutations of IGF1R have been reported in humans. The diagnosis, genetic testing and interpretation, prenatal testing are further discussed. Since majority of the disorders described are transmitted in an autosomal recessive manner, it should be amenable to prenatal testing.",
keywords = "Acid labile subunit (ALS), Growth, Growth hormone (GH), IGF-I receptor (IGF1R), Insulin-like growth factor (IGF), Signal transducer and activator of transcription (STAT)",
author = "Rosenfeld, {Ronald (Ron)} and Vivian Hwa",
year = "2010",
doi = "10.1016/B978-0-12-374430-2.00025-0",
language = "English (US)",
isbn = "9780123744302",
booktitle = "Genetic Diagnosis of Endocrine Disorders",
publisher = "Elsevier Inc.",

}

TY - CHAP

T1 - Genetic Diagnosis of Growth Failure

AU - Rosenfeld, Ronald (Ron)

AU - Hwa, Vivian

PY - 2010

Y1 - 2010

N2 - This chapter focuses on genetic defects associated with growth disorder. It explores the genetic abnormalities of the growth hormone-insulin-like growth factor axis as well as the defects of growth hormone receptor (GHR). The disturbances in each of two hormonal systems may result in growth failure. Chronic hypothyroidism, either primary or secondary can lead to severe stunting of growth in children and growth hormone (GH) deficiency on either a hypothalamic or pituitary basis can result in dramatic postnatal growth failure. The genetic pathophysiology of growth failure involve mutations or deletions of GHR genes and nearly 70 mutations of GHR is reported including missense, nonsense, frameshift and splicing defects. Mutation of IGF1R genes results in dramatic intrauterine growth retardation in animal studies, but no homozygous mutations of IGF1R have been reported in humans. The diagnosis, genetic testing and interpretation, prenatal testing are further discussed. Since majority of the disorders described are transmitted in an autosomal recessive manner, it should be amenable to prenatal testing.

AB - This chapter focuses on genetic defects associated with growth disorder. It explores the genetic abnormalities of the growth hormone-insulin-like growth factor axis as well as the defects of growth hormone receptor (GHR). The disturbances in each of two hormonal systems may result in growth failure. Chronic hypothyroidism, either primary or secondary can lead to severe stunting of growth in children and growth hormone (GH) deficiency on either a hypothalamic or pituitary basis can result in dramatic postnatal growth failure. The genetic pathophysiology of growth failure involve mutations or deletions of GHR genes and nearly 70 mutations of GHR is reported including missense, nonsense, frameshift and splicing defects. Mutation of IGF1R genes results in dramatic intrauterine growth retardation in animal studies, but no homozygous mutations of IGF1R have been reported in humans. The diagnosis, genetic testing and interpretation, prenatal testing are further discussed. Since majority of the disorders described are transmitted in an autosomal recessive manner, it should be amenable to prenatal testing.

KW - Acid labile subunit (ALS)

KW - Growth

KW - Growth hormone (GH)

KW - IGF-I receptor (IGF1R)

KW - Insulin-like growth factor (IGF)

KW - Signal transducer and activator of transcription (STAT)

UR - http://www.scopus.com/inward/record.url?scp=84882551817&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84882551817&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-374430-2.00025-0

DO - 10.1016/B978-0-12-374430-2.00025-0

M3 - Chapter

AN - SCOPUS:84882551817

SN - 9780123744302

BT - Genetic Diagnosis of Endocrine Disorders

PB - Elsevier Inc.

ER -