Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Insulin-like growth factor 1 resistance

The insensitivity of the insulin-like growth factor receptor is caused by loss-of-funtion mutations of the IGF1R gene. The pattern of inheritance is variable. Depending on the type of mutation, it may be autosomal dominant or recessive.

Laboratory tests

Labtests show rather elevated EGF1 levels and a normal response to growth hormone stimulation.

Systematic

Growth hormone insensitivity
Growth hormone insensitivity with immunodeficiency
IGFBP3
Insulin-like growth factor 1 deficiency
Insulin-like growth factor 1 resistance
IGF1R
Insulin-like growth factor 1 transport protein deficiency
Laron syndrome
SH2B1

References:

1.

Abuzzahab MJ et al. (2003) IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.

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2.

Momoi T et al. (1992) Short stature with normal growth hormone and elevated IGF-I.

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3.

Tollefsen SE et al. (1991) Endogenous insulin-like growth factor (IGF) binding proteins cause IGF-1 resistance in cultured fibroblasts from a patient with short stature.

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4.

Bierich JR et al. (1984) Pseudopituitary dwarfism due to resistance to somatomedin: a new syndrome.

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5.

Kaplowitz PB et al. (1984) Stimulation by somatomedin-C of aminoisobutyric acid uptake in human fibroblasts: a possible test for cellular responsiveness to somatomedin.

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6.

Lanes R et al. (1980) Dwarfism associated with normal serum growth hormone and increased bioassayable, receptorassayable, and immunoassayable somatomedin.

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7.

Hattori Y et al. (1996) Decreased insulin-like growth factor I receptor expression and function in immortalized African Pygmy T cells.

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8.

OMIM.ORG article

Omim 270450 [^]
Update: April 29, 2019