Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.[1]

Gliederung

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

Referenzen:

1.

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

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2.

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

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3.

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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4.

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

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5.

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

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6.

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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7.

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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8.

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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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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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19.

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

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20.

None (1962) Median craioencephalic dysraphias and olfactogenital dysplasia.

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21.

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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22.

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

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23.

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

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24.

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

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