Mutations of the growth hormone receptor in children with idiopathic short stature

Article Abstract:

Short children with normal levels of growth hormone (GH) and low levels of GH-binding protein may have mutations of the GH-receptor gene. Researchers analyzed the DNA of 24 normal adults and 14 short children with low GH-binding protein levels. When they found a mutation in the children the researchers tested the binding ability of the GH receptor. Mutations of the GH-binding receptor gene were found in 4 of the 14 children and none of the normal adults. Most of the mutations involved replacements of nucleic acids that altered the part of the GH receptor that lies outside of the cell. Three of the four children with mutations partially responded to GH therapy, indicating that the mutations conferred partial insensitivity on the receptor. People with complete receptor insensitivity do not respond to GH therapy and have Laron dwarfism.

Somatotropin, Somatotropin receptors

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Insulin-like growth factor I - an important intrauterine growth factor

Article Abstract:

Insulin-like growth factor I (IGF-I) may be required for normal brain development prenatally and postnatally. The IGF-I gene mutation found in a young patient who failed to grow adequately may also be associated with his being mentally retarded. Although children with growth hormone mutations have an average-sized head and normal intelligence, the boy with the IGF-I defect did not. The patient's sister was heterozygous for the IGF-I mutation, was shorter than average, and had normal concentrations of IGF-I, IGF-II, and IGF-binding protein 3.

Research, Fetus, Prenatal influences, Insulin-like growth factors, Somatomedins

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IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation

Article Abstract:

Mutations in the gene for the insulin-like growth factor I receptor may cause growth retardation in babies and children, according to a study of 135 children. Among the 92 children who were short, researchers found two children who had the mutation. This mutation was not present in the 43 children with normal birth weights.

Insulin-like growth factor 1, Insulin-like growth factor I

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