Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

Endocrine reviews - 1 Aug 2011

David Alessia, Hwa Vivian, Metherell Louise A, Netchine Irène, Camacho-Hübner Cecilia, Clark Adrian J L, Rosenfeld Ron G, Savage Martin O

Abstract excerpt

GH insensitivity (GHI) presents in childhood as growth failure and in its severe form is associated with dysmorphic and metabolic abnormalities. GHI may be caused by genetic defects in the GH-IGF-I axis or by acquired states such as chronic illness. This article discusses the former category. The field of GHI due to mutations affecting GH action has evolved considerably since the original description of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to GHR gene

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to IGF1 gene

Share to Growth

Share to Human Growth Hormone

Share to Insulin-Like Growth Factor I

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 21525302
DOI: 10.1210/er.2010-0023

Genes

GHR
IGF1
IGFALS
PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.PMID 21525302Read ↗

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH ActionSemantic proximity Read ↗

Genetic causes of growth hormone insensitivity beyond GHR.Semantic proximity Read ↗

Genetic defects of the growth-hormone-IGF axis associated with growth hormone insensitivity.Semantic proximity Read ↗

Genetics of isolated growth hormone deficiency.Semantic proximity Read ↗

Growth hormone insensitivity syndromes: lessons learned and opportunities missed.Semantic proximity Read ↗

Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives.Semantic proximity Read ↗

Phenotypes, investigation and treatment of primary IGF-1 deficiency.Semantic proximity Read ↗

Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes.Semantic proximity Read ↗

Clinical and Molecular Genetic Analysis of Children with Severe Short Stature due to Isolated Growth Hormone Deficiency: Insights from a South Indian Cohort and Predictors of Growth Response.Semantic proximity Read ↗

Genetic causes and treatment of isolated growth hormone deficiency-an update.Semantic proximity Read ↗

Growth disorders caused by genetic defects in the growth hormone pathway.Semantic proximity Read ↗

Isolated Growth Hormone Deficiency (GHD) in Childhood and Adolescence: Recent AdvancesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.