Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Kowarski syndrome

Kowarski syndrome is characterized by bioinactive growth hormone caused by GH1 mutations. Supplementation is effective in these patients.

Systematic

Growth hormone deficiency
GH1
Growth hormone secretagogue resistance
Isolated growth hormone deficiency type 1A
Isolated growth hormone deficiency type 1B
Isolated growth hormone deficiency type 2
Isolated growth hormone deficiency type 3
Kowarski syndrome
GH1

References:

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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7.

Orphanet article

Orphanet ID 629 [^]
8.

OMIM.ORG article

Omim 262650 [^]
9.

Wikipedia article

Wikipedia EN (Kowarski_syndrome) [^]
Update: May 9, 2019