Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Growth hormone deficiency

The disease is characterised by dwarfism due to growth hormone deficiency, which is remediable by GH substitution.

Epidemiology

In Denmark an incidence of childhood growth hormone deficiency has been determined. It is 2.58 in males and 1,70 in females per 100,000. Of course, not all of these cases can be contributed to isolated growth hormone deficiency type II.

Systematic

Disorders of the growth control system
ADAMTSL3
Combined pituitary hormone deficiency
Growth hormone deficiency
GH1
Growth hormone secretagogue resistance
GHSR
Isolated growth hormone deficiency type 1A
GH1
Isolated growth hormone deficiency type 1B
GH1
GHRH
GHRHR
Isolated growth hormone deficiency type 2
GH1
Isolated growth hormone deficiency type 3
BTK
Kowarski syndrome
GH1
Growth hormone hypersensitivity
Growth hormone insensitivity

References:

1.

Binder G et al. (2001) Isolated GH deficiency with dominant inheritance: new mutations, new insights.

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2.

Binder G et al. (2002) Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin.

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3.

Millar DS et al. (2003) Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.

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4.

Stochholm K et al. (2006) Incidence of GH deficiency - a nationwide study.

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5.

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

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Update: Sept. 26, 2018