Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Pituitary hormone deficiency type 5

Septooptic dysplasia is an autosomal recessive or dominant disorder with variable penetrance caused by mutations of the HESX1 gene. Clinically it is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. Only 30% presents with alls these abnormalities.

Epidemiology

The disease is associated with younger maternal age and its incidence 1 in 10,000 life births.[Error: Macro 'ref' doesn't exist]

Systematic

Combined pituitary hormone deficiency
Pituitary hormone deficiency type 1
Pituitary hormone deficiency type 2
Pituitary hormone deficiency type 3
Pituitary hormone deficiency type 4
Pituitary hormone deficiency type 5
HESX1

References:

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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25.

OMIM.ORG article

Omim 182230 [^]
26.

Wikipedia article

Wikipedia EN (Septo-optic_dysplasia) [^]
Update: April 29, 2019