Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Isolierter kongenitaler ACTH-Mangel

Der isolierte kongenitale ACTH-Mangel ist eine autosomal Rezessive Erkrankung die durch Mutationen im TBX19-Gen hervorgerufen wird.

Gliederung

Genetische Erkrankungen der Adenohypophyse
Isolierter kongenitaler ACTH-Mangel
TBX19

Referenzen:

1.

Malpuech G et al. (1988) Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay.

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2.

Lamolet B et al. (2001) A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins.

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3.

Vallette-Kasic S et al. (2005) Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.

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4.

Couture C et al. (2012) Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.

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5.

Lücking T et al. (1975) [Selective ACTH deficiency in two siblings (author's transl)].

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6.

Aynsley-Green A et al. (1978) Isolated ACTH deficiency. Metabolic and endocrine studies in a 7-year-old boy.

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7.

Hung W et al. (1968) Hypoglycemia in a two-year-old boy with adrenocorticotropic hormone (ACTH) deficiency (probably isolated) and adrenal medullary unresponsiveness to insulin-induced hypoglycemia.

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8.

Ichiba Y et al. (1983) Isolated corticotropin deficiency.

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9.

Nussey SS et al. (1993) Isolated congenital ACTH deficiency: a cleavage enzyme defect?

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10.

Funder JW et al. (1993) Isolated ACTH deficiency: enzyme defect or chimaeric enzyme?

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11.

Kyllo JH et al. (1996) Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms.

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12.

ODELL WD et al. (1960) Hypoadrenotropism: the isolated deficiency of adrenotropic hormone.

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Update: 14. August 2020
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