(IGF-1 deficiency)

Incidence: < 1/106. Autosomal recessive transmission of mutations of the insulin-like growth factor-1 (IGF-1) gene (12q22-q24.1), essential for fetal and postnatal growth, brain development and metabolism.

Clinical presentation:

-         pre- and post-natal growth retardation

-         delayed motor and intellectual development

-         microcephaly 

-         sensorineural hearing loss

-         adiposity 

-         insulin resistance. 

-         partial gonadal dysfunction and osteoporosis may also be present. 

Differential diagnosis should include growth hormone insufficiency and resistance to growth hormone (due to GH receptor or STAT5b abnormalities), growth retardation due to resistance to insulin-like growth factor type 1 and primary acid labile subunit deficiency syndrome (see these terms), as well as secondary IGF-1 deficiency due to malnutrition.

Treatment: recombinant IGF-1 can be prescribed to patients with complete IGF-1 deficiency or to patients with an inadequate response to recombinant growth hormone therapy.

Anesthetic implications: 

obesity, mental retardation, glycemic control

References : 

Updated: February 2024