User:KowarskiAA/Sandbox

Title: Kowarski syndrome Kowarski syndrome, is defined as short stature associated with bioinactive growth hormone that is characterized clinically by normal or slightly increased Growth Hormone (GH) secretion, pathologically low Insulin-like Growth Factor 1 (IGF1) levels, and normal catch-up growth on GH replacement therapy. The discovery of the syndrome is based on the realization by Dr. Allen Avinoam Kowarski that the GH secreted by human pituitary gland may be a mixture of several variants due to mutations of the GH gen. Since the biological activity of the GH molecule requires binding by specific areas of the GH molecule to specific GH binding protein on the surface of cells, small variations of the GH in patient’s blood may be less active or even inactive. The concentration of GH in the blood is determined by immunoassays that are not directly depends on the biological activity of the Hormone. The immunoassays depends on the affinity of small areas the GH molecule to specific Antibodies. These areas are not the ones that determine the biological activity of GH. Moreover the antibodies, presently used in the commercial immunoassays for GH, differ in their affinity to the GH molecule. The diagnosis of GH deficiency, which justifies treatment with GH, requires documentation of low secretion of GH. The Kowarski Syndrome represents the exception where GH therapy is justified despite adequate secretion of GH as determined by immunoassay.

Reference http://www.ncbi.nlm.nih.gov/omim/262650