Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Wachstumshormon-Sekretagogum-Resistenz

Die Wachstumshormon-Sekretagogum-Resistenz ist ein autosomal dominanter oder rezessiver Kleinwuchs, der durch Mutationen im Wachstumshormon-Sekretagogum-Rezeptor hervorgerufen wird. Die Penetranz ist selbst innerhalb einer Familie sehr variabel.

Gliederung

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

Referenzen:

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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