Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.
95 - ?
Front Endocrinol (Lausanne)
MetadataShow full item record
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.
AuthorsSavage, MO; Hwa, V; David, A; Rosenfeld, RG; Metherell, LA
- Endocrinology 
Showing items related by title, author, creator and subject.
Defining the role of Fibroblast growth factor 21 (FGF21) in the pathogenesis of growth hormone resistance and subsequent growth failure in chronic childhood conditions MISTRY, JN; Queen Mary University of London (2019-01-21)Fibroblast growth factor 21 (FGF21) is an essential metabolic regulator, adapting to changes in nutritional status. Excessive undernutrition is suggested to elevate FGF21 levels, developing Growth hormone (GH) resistance ...
The characterisation of growth hormone-related cardiac disease with magnetic resonance imaging & The effects of growth hormone dysregulation on adenosine monophosphate-activated protein kinase in cardiac tissue Thomas, Julia Dominique Janine (2012)Chronic growth hormone (GH) excess, acromegaly, causes a specific cardiomyopathy, which remains poorly understood. The pattern of hypertrophy is distinct from other forms of cardiac disease and begins to appear before ...
Effects of growth rate, size, and light availability on tree survival across life stages: a demographic analysis accounting for missing values and small sample sizes. Moustakas, A; Evans, MR (BMC, 2015-02-28)Plant survival is a key factor in forest dynamics and survival probabilities often vary across life stages. Studies specifically aimed at assessing tree survival are unusual and so data initially designed for other purposes ...