Familiärer pränataler Wachstumshormon-Mangel mit erhöhter Bereitschaft zur Bildung von Wachstumshormon-Antikörpern

Summary

Among 19 patients with isolated growth hormone (GH) deficiency, 6 children could be distinguished by the following characteristic features: 1) small body length in relation to weight at birth, 2) retarded growth which appears early and leads to extreme dwarfism, 3) typical face with large, vaulted forehead and small nose with retracted bridge, h) strong anabolic action of GH during a short metabolic test, 5) early appearance of GH antibodies in high concentration followed by an almost complete arrest of growth after an initial growth spurt. Four of these patients are related to each other.

These observations suggest that these 6 childeren suffer from a hereditary total GH-deficiency which is effective already before birth, and which causes a lack of immuntolerance to homologous human GH.