Insulin-like growth factor I deficiency

Definition:

Insulin-like growth factor I (IGF1) deficiency due to mutations in IGF1 gene is an autosomal recessive disorder, characterized by severe prenatal and postnatal growth failure, sensorineural deafness, and mental retardation. Patients have the extremely low IGF1 circulating levels, and respond to treatment with IGF1.

References:

[1]. G Bonapace, et al. A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. J Med Genet. 2003 Dec;40(12):913-7. [Content Brief]

[2]. Joyce Lee, et al. Molecular defects in the growth hormone-IGF axis. Indian J Pediatr. 2005 Feb;72(2):145-8. [Content Brief]

[3]. M J E Walenkamp, et al. Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. J Clin Endocrinol Metab. 2005 May;90(5):2855-64. [Content Brief]

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