Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Erbliche Erkrankungen der Hypophyse

Erbliche Erkrankungen der Hypophyse fassen verschiedene hereditäre Störungen der Hirnanhangsdrüse zusammen.

Gliederung

Erbliche endokrinologische Erkrankungen
Autoimmune Polyendokrinopathie
Erbliche Erkrankungen der Hypophyse
Familiäre und sporadische Hypophysenadenome
CDH23
Kombinierter Hypophysenhormon-Mangel
Hyophysenhormonmangel Typ 1
POU1F1
Hyophysenhormonmangel Typ 2
PROP1
Hyophysenhormonmangel Typ 3
LHX3
Hyophysenhormonmangel Typ 4
LHX4
Hyophysenhormonmangel Typ 5
HESX1
Erkrankungen der Nebenschilddrüse
Hereditärer Diabetes insipidus
Nierenerkrankungen mit endokrinologischer Manifestation
Phäochromozytom
Störungen der Regulation des Wachstums
Störungen der Sexualentwicklung
Störungen des Schilddrüsenhormonsystems
Störungen des Steroidhormonsystems

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.

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

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14.

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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15.

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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16.

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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17.

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

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18.

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

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19.

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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20.

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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21.

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

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22.

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

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