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Center for Nephrology and Metabolic Disorders
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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.

Cooke NE et al. (1986) The related genes encoding growth hormone and prolactin have been dispersed to chromosomes 10 and 17 in the rat.

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2.

Niall HD et al. (1971) Sequences of pituitary and placental lactogenic and growth hormones: evolution from a primordial peptide by gene reduplication.

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3.

Chakravarti A et al. (1984) Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster.

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4.

George DL et al. (1981) The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21 to qter.

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5.

Harper ME et al. (1982) Chromosomal localization of the human placental lactogen-growth hormone gene cluster to 17q22-24.

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6.

Owerbach D et al. (1980) Genes for growth hormone, chorionic somatommammotropin, and growth hormones-like gene on chromosome 17 in humans.

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7.

Sirand-Pugnet P et al. (1995) An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken beta-tropomyosin pre-mRNA.

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8.

Binder G et al. (1995) Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis.

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Update: Aug. 14, 2020
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