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Genetische Erkrankungen der Hypophyse

Genetische Erkrankungen der Hypophyse fassen Erkrankungen zusammen, die sich sowohl im Vorder- wie auch im Hinterlappen der Hypophyse lokalisieren lassen.Pathophysiologisch umfasst die Gruppe alle Hypophysen- und deren Releasing-Hormone.

Gliederung

Erbliche endokrinologische Erkrankungen
Autoimmune Polyendokrinopathie
Erbliche Erkrankungen der Hypophyse
Erkrankungen der Nebenschilddrüse
Genetische Erkrankungen der Hypophyse
Genetische Erkrankungen der Adenohypophyse
Isolierter kongenitaler ACTH-Mangel
TBX19
Genetische Erkrankungen der Neurohypophyse
Genetische Erkrankungen der Nebenniere
Hereditärer Diabetes insipidus
Multiple endokrine Neoplasie 1
Nierenerkrankungen mit endokrinologischer Manifestation
Störungen der Regulation des Wachstums
Störungen der Sexualentwicklung
Störungen des Schilddrüsenhormonsystems

Referenzen:

1.

Pivonello R et al. (1999) Effect of a short-term treatment with alendronate on bone density and bone markers in patients with central diabetes insipidus.

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2.

Nagai I et al. (1984) Two cases of hereditary diabetes insipidus, with an autopsy finding in one.

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3.

Toth EL et al. (1984) Hereditary central diabetes insipidus: plasma levels of antidiuretic hormone in a family with a possible osmoreceptor defect.

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4.

Schmale H et al. (1984) The mutant vasopressin gene from diabetes insipidus (Brattleboro) rats is transcribed but the message is not efficiently translated.

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5.

Majzoub JA et al. (1984) Vasopressin gene is expressed at low levels in the hypothalamus of the Brattleboro rat.

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6.

Blackett PR et al. () Familial central diabetes insipidus: vasopressin and nicotine stimulated neurophysin deficiency with subnormal oxytocin and estrogen stimulated neurophysin.

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7.

Pivonello R et al. (1998) Impairment of bone status in patients with central diabetes insipidus.

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8.

Willcutts MD et al. (1999) Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin.

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9.

Leger J et al. (1999) Thickened pituitary stalk on magnetic resonance imaging in children with central diabetes insipidus.

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10.

None (1967) Hereditary hypothalamic diabetes insipidus in rats (Brattleboro strain). A useful experimental model.

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11.

Pivonello R et al. (2003) Central diabetes insipidus and autoimmunity: relationship between the occurrence of antibodies to arginine vasopressin-secreting cells and clinical, immunological, and radiological features in a large cohort of patients with central diabetes insipidus of known and unknown etiology.

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12.

PENDER CB et al. (1953) Dominant inheritance of diabetes insipidus; a family study.

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13.

BRAVERMAN LE et al. (1965) HEREDITARY IDIOPATHIC DIABETES INSIPIDUS. A CASE REPORT WITH AUTOPSY FINDINGS.

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14.

None (1959) Familial diabetes insipidus.

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15.

None (2003) Dominant-negative diabetes insipidus and other endocrinopathies.

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16.

Russell TA et al. (2003) A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons.

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17.

Christensen JH et al. (2004) Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.

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18.

Wahlstrom JT et al. (2004) A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus.

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19.

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

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20.

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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21.

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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22.

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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23.

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

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24.

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

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25.

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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26.

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

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27.

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

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28.

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

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29.

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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30.

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

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31.

Jirikowski GF et al. (1992) Reversal of diabetes insipidus in Brattleboro rats: intrahypothalamic injection of vasopressin mRNA.

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32.

Laing RB et al. (1991) Facial dysmorphism: a marker of autosomal dominant cranial diabetes insipidus.

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33.

Repaske DR et al. (1990) Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus.

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34.

Pedersen EB et al. (1985) Familial cranial diabetes insipidus: a report of five families. Genetic, diagnostic and therapeutic aspects.

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35.

Sokol HW et al. (1965) Morphology of the neurosecretory system in rats homozygous and heterozygous for hypothalamic diabetes insipidus (Brattleboro strain).

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36.

Valtin H et al. (1965) Neurohypophysial principles in rats homozygous and heterozygous for hypothalamic diabetes insipidus (Brattleboro strain).

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Update: 14. August 2020
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