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Hyophysenhormonmangel Typ 5

Die Septooptische Dysplasie ist eine autosomal rezessive oder dominante Erkrankung mit variabler Penetranz die von Mutationen im HESX1-gen hervorgerufen wird. Die klinischen Symptome skönnen recht variabel sein und ummfassen neben den Störungen der Hypophysenhormone auch eine Optikusatrophie und Mittelhirnabnormalitäten, wie zum Beispiel das Fehlen des Corpus callosum und des Septum pellucidum. Nur etwa 30% der Betroffenen zeigen eine Ausbildung aller Symptome gleichzeitig.

Epidemiologie

Die Erkrankung ist mit einem jüngeren Alter der Mutter assoziiert und die Inzidenz wird mit 1 bei 10.000 Lebendgeburten angegeben.[Error: Macro 'ref' doesn't exist]

Gliederung

Kombinierter Hypophysenhormon-Mangel
Hyophysenhormonmangel Typ 1
Hyophysenhormonmangel Typ 2
Hyophysenhormonmangel Typ 3
Hyophysenhormonmangel Typ 4
Hyophysenhormonmangel Typ 5
HESX1

Referenzen:

1.

Wales JK et al. (1996) Evidence for possible Mendelian inheritance of septo-optic dysplasia.

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2.

Webb EA et al. (2010) Septo-optic dysplasia.

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3.

Harrison IM et al. (2004) Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome.

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4.

Stevens CA et al. (2004) Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.

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5.

Birkebaek NH et al. (2003) Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging.

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6.

None (1962) Median craioencephalic dysraphias and olfactogenital dysplasia.

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7.

Brodsky MC et al. (1997) Sudden death in septo-optic dysplasia. Report of 5 cases.

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8.

Stewart C et al. (1983) Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia.

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9.

Brook CG et al. (1972) Septo-optic dysplasia.

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10.

Harris RJ et al. (1972) Septo-optic dysplasia with growth hormone deficiency (De Morsier syndrome).

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11.

Hoyt WF et al. (1970) Septo-optic dysplasia and pituitary dwarfism.

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12.

Blethen SL et al. (1985) Hypopituitarism and septooptic "dysplasia" in first cousins.

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13.

Benner JD et al. (1990) Septo-optic dysplasia in two siblings.

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14.

Patel H et al. (1975) Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism.

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15.

Purdy F et al. (1979) Maternal factors in septo-optic dysplasia.

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16.

Rush JA et al. (1978) Septo-optic dysplasia (de Morsier syndrome).

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17.

McNay DE et al. (2007) HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

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18.

Sobrier ML et al. (2006) Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.

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19.

Carvalho LR et al. (2003) A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.

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20.

Tajima T et al. (2003) Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.

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21.

Brickman JM et al. (2001) Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.

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22.

Thomas PQ et al. (2001) Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

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23.

Dattani MT et al. (1998) Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.

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24.

Schuelke M et al. (2002) Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.

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25.

OMIM.ORG article

Omim 182230 external link
26.

Wikipedia Artikel

Wikipedia DE (Septo-optische_Dysplasie) external link
Update: 14. August 2020
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