Literature DB >> 30265312

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

Helen L Storr1, Sumana Chatterjee1, Louise A Metherell1, Corinne Foley2, Ron G Rosenfeld3, Philippe F Backeljauw2, Andrew Dauber2, Martin O Savage1, Vivian Hwa2.   

Abstract

GH insensitivity (GHI) presents in childhood with growth failure and in its severe form is associated with extreme short stature and dysmorphic and metabolic abnormalities. In recent years, the clinical, biochemical, and genetic characteristics of GHI and other overlapping short stature syndromes have rapidly expanded. This can be attributed to advancing genetic techniques and a greater awareness of this group of disorders. We review this important spectrum of defects, which present with phenotypes at the milder end of the GHI continuum. We discuss their clinical, biochemical, and genetic characteristics. The objective of this review is to clarify the definition, identification, and investigation of this clinically relevant group of growth defects. We also review the therapeutic challenges of mild GHI.
Copyright © 2019 Endocrine Society.

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Year:  2019        PMID: 30265312      PMCID: PMC6607971          DOI: 10.1210/er.2018-00146

Source DB:  PubMed          Journal:  Endocr Rev        ISSN: 0163-769X            Impact factor:   19.871


  260 in total

Review 1.  The insulin-like growth factor-binding protein (IGFBP) superfamily.

Authors:  V Hwa; Y Oh; R G Rosenfeld
Journal:  Endocr Rev       Date:  1999-12       Impact factor: 19.871

2.  Inactivation of the acid labile subunit gene in mice results in mild retardation of postnatal growth despite profound disruptions in the circulating insulin-like growth factor system.

Authors:  I Ueki; G T Ooi; M L Tremblay; K R Hurst; L A Bach; Y R Boisclair
Journal:  Proc Natl Acad Sci U S A       Date:  2000-06-06       Impact factor: 11.205

3.  Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

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Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

4.  Amino acids within the extracellular matrix (ECM) binding region (201-218) of rat insulin-like growth factor binding protein (IGFBP)-5 are important determinants in binding IGF-I.

Authors:  S Bramani; H Song; J Beattie; E Tonner; D J Flint; G J Allan
Journal:  J Mol Endocrinol       Date:  1999-08       Impact factor: 5.098

5.  Functional characterization of truncated growth hormone (GH) receptor-(1-277) causing partial GH insensitivity syndrome with high GH-binding protein.

Authors:  K Iida; Y Takahashi; H Kaji; M O Takahashi; Y Okimura; O Nose; H Abe; K Chihara
Journal:  J Clin Endocrinol Metab       Date:  1999-03       Impact factor: 5.958

6.  The C422F mutation of the growth hormone receptor gene is not responsible for short stature.

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Journal:  J Clin Endocrinol Metab       Date:  1999-11       Impact factor: 5.958

7.  Serum levels of insulin-like growth factor binding proteins in Ecuadorean children with growth hormone insensitivity.

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Journal:  Acta Paediatr Suppl       Date:  1999-02

8.  Effects of recombinant human insulin-like growth factor I (IGF-I) therapy on the growth hormone-IGF system of a patient with a partial IGF-I gene deletion.

Authors:  C Camacho-Hübner; K A Woods; F Miraki-Moud; P C Hindmarsh; A J Clark; Y Hansson; A Johnston; R C Baxter; M O Savage
Journal:  J Clin Endocrinol Metab       Date:  1999-05       Impact factor: 5.958

9.  Normal growth and development in the absence of hepatic insulin-like growth factor I.

Authors:  S Yakar; J L Liu; B Stannard; A Butler; D Accili; B Sauer; D LeRoith
Journal:  Proc Natl Acad Sci U S A       Date:  1999-06-22       Impact factor: 11.205

10.  Effect of growth hormone treatment on adult height of children with idiopathic short stature. Genentech Collaborative Group.

Authors:  R L Hintz; K M Attie; J Baptista; A Roche
Journal:  N Engl J Med       Date:  1999-02-18       Impact factor: 91.245

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  12 in total

Review 1.  Growth Hormone and Counterregulation in the Pathogenesis of Diabetes.

Authors:  Xuehong Dong; Lei Su; Mary-Elizabeth Patti
Journal:  Curr Diab Rep       Date:  2022-08-24       Impact factor: 5.430

2.  Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome.

Authors:  Ran Li; Fengying Gong; Hui Pan; Hanting Liang; Hui Miao; Yuxing Zhao; Lian Duan; Hongbo Yang; Linjie Wang; Shi Chen; Huijuan Zhu
Journal:  Front Endocrinol (Lausanne)       Date:  2021-04-12       Impact factor: 5.555

3.  Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches.

Authors:  Martin Oswald Savage; Helen Louise Storr
Journal:  Ann Pediatr Endocrinol Metab       Date:  2021-12-31

4.  Editorial: History of Growth Hormone: Animal to Human.

Authors:  Edward O Reiter; Laurie E Cohen; Alan D Rogol
Journal:  Front Endocrinol (Lausanne)       Date:  2021-11-03       Impact factor: 5.555

5.  Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein.

Authors:  Ankur Rughani; Dongsheng Zhang; Kanimozhi Vairamani; Andrew Dauber; Vivian Hwa; Sowmya Krishnan
Journal:  Clin Endocrinol (Oxf)       Date:  2020-01-22       Impact factor: 3.478

6.  Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.

Authors:  Eric Bartell; Masanobu Fujimoto; Jane C Khoury; Philip R Khoury; Sailaja Vedantam; Christina M Astley; Joel N Hirschhorn; Andrew Dauber
Journal:  Hum Mol Genet       Date:  2020-08-29       Impact factor: 5.121

7.  GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients.

Authors:  Sumana Chatterjee; Emily Cottrell; Stephen J Rose; Talat Mushtaq; Avinash Vickram Maharaj; Jack Williams; Martin O Savage; Louise A Metherell; Hl Storr
Journal:  Endocr Connect       Date:  2020-02-01       Impact factor: 3.335

8.  Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.

Authors:  Emily Cottrell; Claudia P Cabrera; Miho Ishida; Sumana Chatterjee; James Greening; Neil Wright; Artur Bossowski; Leo Dunkel; Asma Deeb; Iman Al Basiri; Stephen J Rose; Avril Mason; Susan Bint; Joo Wook Ahn; Vivian Hwa; Louise A Metherell; Gudrun E Moore; Helen L Storr
Journal:  Eur J Endocrinol       Date:  2020-12       Impact factor: 6.664

Review 9.  GH Resistance Is a Component of Idiopathic Short Stature: Implications for rhGH Therapy.

Authors:  Martin O Savage; Helen L Storr
Journal:  Front Endocrinol (Lausanne)       Date:  2021-12-10       Impact factor: 5.555

Review 10.  Genetic causes of growth hormone insensitivity beyond GHR.

Authors:  Vivian Hwa; Masanobu Fujimoto; Gaohui Zhu; Wen Gao; Corinne Foley; Meenasri Kumbaji; Ron G Rosenfeld
Journal:  Rev Endocr Metab Disord       Date:  2020-10-08       Impact factor: 6.514

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