Insulin-like growth factor-I deficiency caused by a partial deletion of the IGF-I gene: effects of rhIGF-I therapy.
Insulin-like growth factor-I (IGF-I) is one of the most important regulator of growth. IGF-I deficiency is associated with prenatal and post-natal growth failure and may arise primarily as a result of GH receptor/post-receptor abnormalities or defects in the synthesis and transport of IGF-I. We have previously reported a 17.2-year-old boy with severe growth retardation and undetectable serum levels of IGF-I caused by a partial deletion of the IGF-I gene. This short review will concentrate on results of a recent study which examined the effects of rhIGF-I therapy on the GH-IGF system of this patient. Similar to healthy individuals, this patient had normal IGFBP-3 but elevated ALS levels. IGF-I treatment has improved linear growth and insulin sensitivity in this patient by restoring IGF-I levels and by normalizing circulating GH, IGFBPs and insulin levels.
Camacho-Hübner
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C
Department of Endocrinology, St. Bartholomew's Hospital, London, UK.
Woods
K A
KA
Miraki-Moud
F
F
Clark
A
A
Savage
M O
MO
D000293:Adolescent; D005317:Fetal Growth Retardation / Q000235:genetics; D006130:Growth Disorders / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000172:deficiency* / Q000235:genetics* / Q000627:therapeutic use; D008297:Male; D010641:Phenotype; D011994:Recombinant Proteins / Q000627:therapeutic use; D017384:Sequence Deletion
D011994:Recombinant Proteins; D007334:Insulin-Like Growth Factor I