Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyophysenhormonmangel Typ 1

Der kombinierte Hyophysenhormonmangel Typ 1 ist eine autosomal dominant oder rezessive Erkrankung, die durch Mutationen im POU1F1-Gen hervorgerufen wird. Klinisch stehen die Symptome der fehlenden Hypophysenhormone im Vordergrund.

Gliederung

Kombinierter Hypophysenhormon-Mangel
Hyophysenhormonmangel Typ 1
POU1F1
Hyophysenhormonmangel Typ 2
Hyophysenhormonmangel Typ 3
Hyophysenhormonmangel Typ 4
Hyophysenhormonmangel Typ 5

Referenzen:

1.

None (2005) Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?

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2.

Rogol AD et. al. (1976) Congenital hypothyroidism in a young man with growth hormone, thyrotropin, and prolactin deficiencies.

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3.

Tatsumi K et. al. (1992) Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.

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4.

Ohta K et. al. (1992) Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.

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5.

Radovick S et. al. (1992) A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.

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6.

Pfäffle RW et. al. (1992) Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.

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7.

Wit JM et. al. (1989) Total deficiency of growth hormone and prolactin, and partial deficiency of thyroid stimulating hormone in two Dutch families: a new variant of hereditary pituitary deficiency.

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8.

McArthur RG et. al. (1985) The natural history of familial hypopituitarism.

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9.

McKusick VA et. al. (1967) General Tom Thumb and other midgets.

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10.

de Zegher F et. al. (1995) The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency.

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11.

Irie Y et. al. (1995) A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency.

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12.

Okamoto N et. al. (1994) Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype.

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13.

Pellegrini-Bouiller I et. al. (1996) A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency.

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14.

Aarskog D et. al. (1997) Pituitary dwarfism in the R271W Pit-1 gene mutation.

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15.

Pernasetti F et. al. (1998) Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.

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16.

Vallette-Kasic S et. al. (2001) Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates.

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17.

Hendriks-Stegeman BI et. al. (2001) Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.

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18.

Hashimoto Y et. al. (2003) A novel nonsense mutation in the Pit-1 gene: evidence for a gene dosage effect.

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19.

Turton JP et. al. (2005) Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

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20.

Miyata I et. al. (2006) Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.

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21.

Sloop KW et. al. (2000) Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.

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22.

Wu W et. al. (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency.

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23.

Voss JW et. al. (1992) Anterior pituitary development: short tales from dwarf mice.

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