Klinik: 

Definition: Das Kowarski-Syndrom ist durch biologisch inaktives Wachstumshormon gekennzeichnet. Ursache sind Mutationen des GH-Gens. Eine Substitutionstherapie bringt sicheren Erfolg.

Literatur: 

Besson A et al. (2005) Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).
Bright GM et al. (1983) Short stature associated with normal growth hormone and decreased somatomedin-C concentrations: response to exogenous growth hormone.
Kowarski AA et al. (1978) Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH.
Takahashi Y et al. (1996) Brief report: short stature caused by a mutant growth hormone.
Takahashi Y et al. (1997) Biologically inactive growth hormone caused by an amino acid substitution.
Valenta LJ et al. (1985) Pituitary dwarfism in a patient with circulating abnormal growth hormone polymers.