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Laron syndrome (LS), also known as growth hormone insensitivity or growth hormone receptor deficiency (GHRD), is an autosomal recessive disorder characterized by a lack of insulin-like growth factor 1 (IGF-1; somatomedin-C) production in response to growth hormone (GH; hGH; somatotropin). [6]
ischemic or hemorrhagic infarction from low blood pressure (Sheehan syndrome) or hemorrhage pituitary apoplexy; There are a variety of rare diseases that resemble GH deficiency, including the childhood growth failure, facial appearance, delayed bone age, and low insulin-like growth factor-1 (IGF-1) levels. However, GH testing elicits normal or ...
The diagnosis of growth hormone deficiency is a multi-step procedure that involves pituitary MRI, biochemical testing (growth hormone stimulation tests and measurement of IGF-1/IGFBP3), clinical and auxological examination, and genetic test results. [8]
Low IGF-1 levels are associated with cardiovascular disease, while high IGF-1 levels are associated with cancer. Mid-range IGF-1 levels are associated with the lowest mortality. A synthetic analog of IGF-1, mecasermin, is used for the treatment of growth failure in children with severe IGF-1 deficiency. [15]
The IGF-1 receptor is the "physiological" receptor. IGF-1 binds to it at significantly higher affinity than it binds the insulin receptor. Like the insulin receptor, the IGF-1 receptor is a receptor tyrosine kinase—meaning the receptor signals by causing the addition of a phosphate molecule on particular tyrosines. The IGF-2 receptor only ...
Schilder disease or diffuse myelinoclastic sclerosis: is a rare disease that presents clinically as a pseudotumoural demyelinating lesion; and is more common in children. [56] [57] Solitary sclerosis: This variant was proposed (2012) by Mayo Clinic researchers. [58] though it was also reported by other groups more or less at the same time.
Mecasermin, sold under the brand name Increlex, also known as recombinant human insulin-like growth factor-1 (rhIGF-1), is a recombinant form of human insulin-like growth factor 1 (IGF-I) which is used in the long-term treatment of growth failure and short stature in children with severe primary IGF-I deficiency, for instance due to growth hormone deficiency or Laron syndrome (growth hormone ...
E.g., Nitisinone prevents the formation of toxic metabolites for patients with Tyrosinemia Type I and enables normal growth and development in combination with a low-protein diet; Vitamins. E.g., thiamine supplementation benefits several types of disorders that cause lactic acidosis.