Kowarski syndrome

Kowarski syndrome
Other namesShort stature due to growth hormone qualitative anomaly
This condition is inherited in an autosomal recessive manner.

Kowarski syndrome describes cases of growth failure (height and bone age two standard deviations below the mean for age), despite the presence of normal or slightly high blood growth hormone by radioimmunoassay (RIA-GH) and low serum IGF1 (formerly called somatomedin), and who exhibit a significant increase in growth rate following recombinant GH therapy.

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