6 top medical experts on Kowarski syndrome across 1 countries. This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Kowarski syndrome: Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: Nanism due to growth hormone qualitative anomaly,  Pituitary Dwarfism With Normal Immunoreactive Growth Hormone And Low Somatomedin,  Pituitary dwarfism 4,  Pituitary dwarfism with normal immunoreactive growth hormone


  

        

                    


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