Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

ACTH-unabhängige makronoduläre adrenale Hyperplasie 1

Die ACTH-unabhängige makronoduläre adrenale Hyperplasie 1 ist charakterisiert durch eine Hypertrophie der Nebennierenrinde mit einer Überproduktion von Glucocorticoiden (Cushing-Syndrom), bei supprimiertem ACTH. Gelegentlich werden Mutationen im GNAS-Gen für diese Erkrankung verantwortlich gemacht.

Gliederung

Störungen des Steroidhormonsystems
ACTH-unabhängige makronoduläre adrenale Hyperplasie 1
GNAS
ACTH-unabhängige makronoduläre adrenale Hyperplasie 2
Adrenale Insuffizienz mit Erythrotrichie und Fettsucht aufgrund von POMC-Mangel
Gestörte Steroidsynthese aufgrund eines POR-Mangels
Glukokortikoid-Resistenz
Kongenitale adrenale Hyperplasie bei 17-alpha-Hydroxylase-Mangel
Störungen des Aldosteronsystems

Referenzen:

1.

Lacroix A et. al. (1992) Gastric inhibitory polypeptide-dependent cortisol hypersecretion--a new cause of Cushing's syndrome.

[^]
2.

Reznik Y et. al. (1992) Food-dependent Cushing's syndrome mediated by aberrant adrenal sensitivity to gastric inhibitory polypeptide.

[^]
3.

Aiba M et. al. (1991) Adrenocorticotropic hormone-independent bilateral adrenocortical macronodular hyperplasia as a distinct subtype of Cushing's syndrome. Enzyme histochemical and ultrastructural study of four cases with a review of the literature.

[^]
4.

Hamet P et. al. (1987) Cushing syndrome with food-dependent periodic hormonogenesis.

[^]
5.

Sasano H et. al. (1994) ACTH-independent macronodular adrenocortical hyperplasia: immunohistochemical and in situ hybridization studies of steroidogenic enzymes.

[^]
6.

Findlay JC et. al. (1993) Familial adrenocorticotropin-independent Cushing's syndrome with bilateral macronodular adrenal hyperplasia.

[^]
7.

Koizumi S et. al. (1994) Adrenocorticotropic hormone-independent bilateral adrenocortical macronodular hyperplasia: a case report and immunohistochemical studies.

[^]
8.

Minami S et. al. (1996) ACTH independent Cushing's syndrome occurring in siblings.

[^]
9.

de Herder WW et. al. (1996) Food-dependent Cushing's syndrome resulting from abundant expression of gastric inhibitory polypeptide receptors in adrenal adenoma cells.

[^]
10.

Morioka M et. al. (1997) ACTH-independent macronodular adrenocortical hyperplasia (AIMAH): report of two cases and the analysis of steroidogenic activity in adrenal nodules.

[^]
11.

Lacroix A et. al. (1997) Abnormal adrenal and vascular responses to vasopressin mediated by a V1-vasopressin receptor in a patient with adrenocorticotropin-independent macronodular adrenal hyperplasia, Cushing's syndrome, and orthostatic hypotension.

[^]
12.

Lacroix A et. al. (1997) Propranolol therapy for ectopic beta-adrenergic receptors in adrenal Cushing's syndrome.

[^]
13.

Swain JM et. al. (1998) Corticotropin-independent macronodular adrenal hyperplasia: a clinicopathologic correlation.

[^]
14.

Lebrethon MC et. al. (1998) Food-dependent Cushing's syndrome: characterization and functional role of gastric inhibitory polypeptide receptor in the adrenals of three patients.

[^]
15.

Lacroix A et. al. (1999) Leuprolide acetate therapy in luteinizing hormone--dependent Cushing's syndrome.

[^]
16.

Doppman JL et. al. (2000) Adrenocorticotropin-independent macronodular adrenal hyperplasia: an uncommon cause of primary adrenal hypercortisolism.

[^]
17.

Mircescu H et. al. (2000) Are ectopic or abnormal membrane hormone receptors frequently present in adrenal Cushing's syndrome?

[^]
18.

Mune T et. al. (2002) Eutopic overexpression of vasopressin v1a receptor in adrenocorticotropin-independent macronodular adrenal hyperplasia.

[^]
19.

Cartier D et. al. (2003) Overexpression of serotonin4 receptors in cisapride-responsive adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia causing Cushing's syndrome.

[^]
20.

Miyamura N et. al. (2002) Inherited adrenocorticotropin-independent macronodular adrenal hyperplasia with abnormal cortisol secretion by vasopressin and catecholamines: detection of the aberrant hormone receptors on adrenal gland.

[^]
21.

Fragoso MC et. al. (2003) Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.

[^]
22.

KIRSCHNER MA et. al. (1964) CUSHING'S SYNDROME: NODULAR CORTICAL HYPERPLASIA OF ADRENAL GLANDS WITH CLINICAL AND PATHOLOGICAL FEATURES SUGGESTING ADRENOCORTICAL TUMOR.

[^]
23.

Bourdeau I et. al. (2004) Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators.

[^]
24.

Christopoulos S et. al. (2005) Clinical and subclinical ACTH-independent macronodular adrenal hyperplasia and aberrant hormone receptors.

[^]
25.

Lee S et. al. (2005) Ectopic expression of vasopressin V1b and V2 receptors in the adrenal glands of familial ACTH-independent macronodular adrenal hyperplasia.

[^]
26.

Bourdeau I et. al. (2006) 17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia.

[^]
27.

Sato Y et. al. (2014) Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.

[^]