Somatomedin C deficiency (IGF1-deficiency) is an autosomal recessive disorder caused by mutations of the IGF1 gene that is characterized by growth retardation, sensorineural deafness, and mental retardation. Depending on the type of mutation Symptoms may become apparent in uteri or later in life.
Labtests show a reduction of functional IGF1 while growth hormone may be rather elevated.
|Growth hormone insensitivity|
|Growth hormone insensitivity with immunodeficiency|
|Insulin-like growth factor 1 deficiency|
|Insulin-like growth factor 1 resistance|
|Insulin-like growth factor 1 transport protein deficiency|
Bonapace G et al. (2003) A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.[^]
Bowcock A et al. (1990) Polymorphism and mapping of the IGF1 gene, and absence of association with stature among African Pygmies.[^]
Woods KA et al. (1996) Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene.[^]
Camacho-Hübner C et al. (1999) Effects of recombinant human insulin-like growth factor I (IGF-I) therapy on the growth hormone-IGF system of a patient with a partial IGF-I gene deletion.[^]
Woods KA et al. (2000) Effects of insulin-like growth factor I (IGF-I) therapy on body composition and insulin resistance in IGF-I gene deletion.[^]
Merimee TJ et al. (1981) Dwarfism in the pygmy. An isolated deficiency of insulin-like growth factor I.[^]
OMIM.ORG articleOmim 608747 [^]