Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Growth hormone secretagogue resistance

Growth hormon secretagogue resistance is an autosomal dominant or recessive short stature syndrome caused by growth hormone secretagogue receptor (GHSR) mutations. Panitrance is variable even in the same family.

Systematic

Growth hormone deficiency
GH1
Growth hormone secretagogue resistance
GHSR
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

References:

1.

Goddard AD et al. (1995) Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group.

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2.

Ayling RM et al. (1997) A dominant-negative mutation of the growth hormone receptor causes familial short stature.

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3.

Kaji H et al. (2001) Hormonal regulation of the human ghrelin receptor gene transcription.

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4.

García A et al. (2001) Regulation of Pit-1 expression by ghrelin and GHRP-6 through the GH secretagogue receptor.

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5.

Dixit VD et al. (2004) Ghrelin inhibits leptin- and activation-induced proinflammatory cytokine expression by human monocytes and T cells.

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6.

Zigman JM et al. (2005) Mice lacking ghrelin receptors resist the development of diet-induced obesity.

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7.

Pantel J et al. (2006) Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.

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8.

Pantel J et al. (2009) Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.

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9.

Howard AD et al. (1996) A receptor in pituitary and hypothalamus that functions in growth hormone release.

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10.

McKee KK et al. (1997) Molecular analysis of rat pituitary and hypothalamic growth hormone secretagogue receptors.

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Update: Sept. 26, 2018