Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Isolierter dominanter Wachstumshormonmangel

Der isolierte Wachstumshormonmangel vom Typ 2 ist eine autosomal dominante Erkrankung, welche durch Mutationen im GH1-Gen ausgelöst werden. Klinisch ist das Bild durch eine Wachstumsretardierung und eine verzögerte Knochenreife charakterisiert. Eine Substitutionsbehandlung ist erfolgreich.

Gliederung

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

Referenzen:

1.

Mullis PE et al. (2005) Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

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2.

Shariat N et al. (2008) Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.

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3.

Phillips JA et al. (1994) Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency.

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4.

Rimoin DL et al. (1966) Growth-hormone deficiency in man: an isolated, recessively inherited defect.

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5.

Rona RJ et al. (1977) Aetiology of idiopathic growth hormone deficiency in England and Wales.

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6.

WARKANY J et al. (1961) Intrauterine growth retardation.

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7.

Artman HG et al. (1992) 18p- syndrome and hypopituitarism.

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8.

Tani N et al. (1987) A family case with autosomal-dominantly inherited pituitary dwarfism.

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9.

Sadeghi-Nejad A et al. (1974) Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).

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10.

Poskitt EM et al. (1974) Isolated growth hormone deficiency. Two families with autosomal dominant inheritance.

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11.

Sheikholislam BM et al. (1972) Hereditary isolated somatotropin deficiency: effects of human growth hormone administration.

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12.

Merimee TJ et al. (1972) Studies in high-deficient dwarfs: the type II anomaly.

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13.

Butenandt O et al. (1970) [Familial hypopituitarism].

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14.

van Gelderen HH et al. (1981) Familial isolated growth hormone deficiency.

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15.

Schober E et al. (1995) 18p monosomy with GH-deficiency and empty sella: good response to GH-treatment.

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16.

Hamilton J et al. (1998) Familial growth hormone deficiency associated with MRI abnormalities.

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