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
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Hyophysenhormonmangel Typ 1
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POU1F1
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Hyophysenhormonmangel Typ 2
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Hyophysenhormonmangel Typ 3
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Hyophysenhormonmangel Typ 4
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Hyophysenhormonmangel Typ 5
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Referenzen:
| 1. |
None (2005) Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? [^] |
| 2. |
Rogol AD et. al. (1976) Congenital hypothyroidism in a young man with growth hormone, thyrotropin, and prolactin deficiencies. [^] |
| 3. |
Tatsumi K et. al. (1992) Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. [^] |
| 4. |
Ohta K et. al. (1992) Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. [^] |
| 5. |
Radovick S et. al. (1992) A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. [^] |
| 6. |
Pfäffle RW et. al. (1992) Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. [^] |
| 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. [^] |
| 8. |
McArthur RG et. al. (1985) The natural history of familial hypopituitarism. [^] |
| 9. |
McKusick VA et. al. (1967) General Tom Thumb and other midgets. [^] |
| 10. |
de Zegher F et. al. (1995) The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency. [^] |
| 11. |
Irie Y et. al. (1995) A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency. [^] |
| 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. [^] |
| 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. [^] |
| 14. |
Aarskog D et. al. (1997) Pituitary dwarfism in the R271W Pit-1 gene mutation. [^] |
| 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. [^] |
| 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. [^] |
| 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. [^] |
| 18. |
Hashimoto Y et. al. (2003) A novel nonsense mutation in the Pit-1 gene: evidence for a gene dosage effect. [^] |
| 19. |
Turton JP et. al. (2005) Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. [^] |
| 20. |
Miyata I et. al. (2006) Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency. [^] |
| 21. |
Sloop KW et. al. (2000) Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia. [^] |
| 22. |
Wu W et. al. (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency. [^] |
| 23. |
Voss JW et. al. (1992) Anterior pituitary development: short tales from dwarf mice. [^] |
