Das Laron-Syndrom ist eine autosomal rezessive Erkrankung die durch loss-of-function mutationen im Wachstumshormon-Rezeptor (GHR) Gen hervorgerufen wird.
Klinisch zeichnet sich das Krankheitsbild vor allem durch ein vermindertes Knochenwachstum und eine verzögerte Knochenreifung aus. Dabei sind Knochendysplasien nicht vorhanden.
Die typische Laborkonstellation ist ein eher erhöhter Wachstumshormonspiegel bei deutlich erniedrigtem Somatomedin C Spiegel, auch bekannt als Insulin-ähnlicher Wachstumsfaktor 1 (IGF1). Der Spiegel des Wachstumshormon bindenden Proteins ist dagegen variabel ind Abhängigkeit von der Mutation. Nicht unerwähnt bleiben sollte eine Hypercholesterinämie, die mit Mutationen des Gens in Zusammenhang gebracht werden kann.
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Eshet R et al. (1984) Defect of human growth hormone receptors in the liver of two patients with Laron-type dwarfism. |
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Keret R et al. (1988) Growth hormone (hGH) secretion and turnover in three patients with Laron-type dwarfism. |
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None (1974) Syndrome of familial dwarfism and high plasma immunoreactive growth hormone. |
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Zhou Y et al. (1997) A mammalian model for Laron syndrome produced by targeted disruption of the mouse growth hormone receptor/binding protein gene (the Laron mouse). |
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Arden KC et al. (1990) The receptors for prolactin and growth hormone are localized in the same region of human chromosome 5. |
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Berg MA et al. (1993) Diverse growth hormone receptor gene mutations in Laron syndrome. |
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Woods KA et al. (1996) A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. |
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Laron Z et al. () Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism? |
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Kastrup KW et al. (1975) Increased immunoreactive plasma and urinary growth hormone in growth retardation with defective generation of somatomedin a (Laron's Syndrome). |
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Laron Z et al. (1992) Effects of insulin-like growth factor on linear growth, head circumference, and body fat in patients with Laron-type dwarfism. |
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Benbassat CA et al. (2003) Are adult patients with Laron syndrome osteopenic? A comparison between dual-energy X-ray absorptiometry and volumetric bone densities. |
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None (1992) Molecular biology of growth hormone receptor dysfunction. |
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None (2004) Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003. |
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Jacobs LS et al. (1976) Receptor-active growth hormone in Laron dwarfism. |
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Eicher EM et al. (1991) Growth hormone receptor (Ghr) and hemoglobin alpha-chain pseudogene 3 (Hba-ps3) map proximal to the myelocytomatosis oncogene (Myc) on mouse chromosome 15. |
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Walker JL et al. (1991) Effects of the infusion of insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron dwarfism). |
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Aguirre A et al. (1990) High-affinity serum growth-hormone-binding protein, absent in Laron-type dwarfism, is diminished in heterozygous parents. |
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Guevara-Aguirre J et al. (2011) Growth hormone receptor deficiency is associated with a major reduction in pro-aging signaling, cancer, and diabetes in humans. |
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Laron Z et al. (1989) A child with phenotypic Laron dwarfism and normal somatomedin levels. |
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OMIM.ORG article Omim 262500 |
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Orphanet article Orphanet ID 633 |
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Wikipedia Artikel Wikipedia DE (Laron-Syndrom) |