Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kowarski-Syndrom

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

Gliederung

Wachstumshormon-Mangel
GH1
Isolierter dominanter Wachstumshormonmangel
Isolierter rezessiver Wachstumshormonmangel Typ 1A
Isolierter rezessiver Wachstumshormonmangel Typ 1B
Isolierter x-chromosomaler Wachstumshormonmangel
Kowarski-Syndrom
GH1
Wachstumshormon-Sekretagogum-Resistenz

Referenzen:

1.

Takahashi Y et al. (1996) Brief report: short stature caused by a mutant growth hormone.

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2.

Besson A et al. (2005) Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).

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3.

Takahashi Y et al. (1997) Biologically inactive growth hormone caused by an amino acid substitution.

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4.

Kowarski AA et al. (1978) Growth failure with normal serum RIA-GH and low somatomedin activity: somatomedin restoration and growth acceleration after exogenous GH.

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5.

Valenta LJ et al. (1985) Pituitary dwarfism in a patient with circulating abnormal growth hormone polymers.

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6.

Bright GM et al. (1983) Short stature associated with normal growth hormone and decreased somatomedin-C concentrations: response to exogenous growth hormone.

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