ArticleFrontiers in endocrinology2011
Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.
Article in Frontiers in endocrinology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 55 citations in OpenAlex.
- The role of GH/IGF-1 axis dysfunction and inflammatory cytokines in pediatric short stature.Journal of medical biochemistry · 2025Article
- An integrated multi-omic natural history study of human development, sexual dimorphism, and the effects of trisomy 21.Nature communications · 2025Article
- Genetic Variability in Child Growth Among South American Populations: A Perspective Integrating Population Genetics, Growth Standards, and Precision Growth Medicine.International journal of molecular sciences · 2025Review
- Tmem263 deletion disrupts the GH/IGF-1 axis and causes dwarfism and impairs skeletal acquisition.eLife · 2024Article
- Clinical characteristics and treatment efficacy in patients with primary severe IGF-1 deficiency treated with recombinant IGF-1.Frontiers in pediatrics · 2024Article
- The effect of anastrozole therapy on final height and sex hormone levels in pubertal boys receiving growth hormone therapy.Archives of endocrinology and metabolism · 2023Article
- Tmem263 deletion disrupts the GH/IGF-1 axis and causes dwarfism and impairs skeletal acquisition.bioRxiv : the preprint server for biology · 2023Article
- Hormonal Determinants of Growth and Weight Gain in the Human Fetus and Preterm Infant.Nutrients · 2023Review
- Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.BMC endocrine disorders · 2023Article
- Short stature related to Growth Hormone Insensitivity (GHI) in childhood.Frontiers in endocrinology · 2023Review
- IGF1 deficiency integrates stunted growth and neurodegeneration in Down syndrome.Cell reports · 2022Article
- Structural basis for assembly and disassembly of the IGF/IGFBP/ALS ternary complex.Nature communications · 2022Article
- Various phenotypes of short stature with heterozygousClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Article
- Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.The Journal of clinical endocrinology and metabolism · 2021Article
- Gamma-Aminobutyric Acid (GABA) Promotes Growth in Zebrafish Larvae by Inducing IGF-1 Expression via GABAInternational journal of molecular sciences · 2021Article
- Hepatocardiac or Cardiohepatic Interaction: From Traditional Chinese Medicine to Western Medicine.Evidence-based complementary and alternative medicine : eCAM · 2021Review
- Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.Human molecular genetics · 2020Article
- Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhood.European journal of endocrinology · 2020Article
- Dwarfism and insulin resistance in male offspring caused by α1-adrenergic antagonism during pregnancy.Molecular metabolism · 2017Article
- GDF15 is a heart-derived hormone that regulates body growth.EMBO molecular medicine · 2017Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Human genetic defects in the growth hormone (GH)-IGF-I axis affecting the IGF system present with growth failure as their principal clinical feature. This is usually associated with GH insensitivity (GHI) presenting in childhood as severe or mild short stature. Dysmorphic features and metabolic abnormalities may also be present. The field of GHI due to mutations affecting GH action has evolved rapidly since the first description of the extreme phenotype related to homozygous GH receptor (GHR) mutations in 1966. A continuum of genetic, phenotypic, and biochemical abnormalities can be defined associated with clinically relevant defects in linear growth. The mechanisms of the GH-IGF-I axis in the regulation of normal human growth is discussed followed by descriptions of mutations in GHR, STAT5B, IGF-I, IGFALS, IGF1R, and GH1 defects causing bio-inactive GH or anti-GH antibodies. These GH-IGF-I axis defects are associated with a range of clinical, and hormonal characteristics. An up-dated approach to the clinical assessment of the patient with GHI focusing on investigation of the GH-IGF-I axis and relevant molecular studies contributing to the identification of causative genetic defects is also discussed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.