Preferred Label : Short stature due to growth hormone qualitative anomaly;
ICD-11 definition : This syndrome 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.;
ICD-11 synonym : Kowarski syndrome; Nanism due to growth hormone qualitative anomaly;
Origin ID : 1665498704;
Automatic exact mappings (from CISMeF team)
This syndrome 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.
