Short stature due to growth hormone qualitative anomaly

Short stature due to growth hormone qualitative anomaly is characterized 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.

Also known as: Kowarski syndrome, Biodefective Growth hormone, KOWARSKI syndrome, pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin

9 clinical trials for this condition and its sub-types.