Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia (MUTA-GR)

CHU de Reims

Status: Completed

Conditions: General Glucocorticoid Resistance

Treatments: Genetic: blood collection for mutation characterization

Study type: Interventional

Funder types: Other

Identifiers

NCT02810496

PN11010

Details and patient eligibility

About

As the investigators observed a case of glucocorticoid mutation revealed by incidentally discovered bilateral adrenal nodular hyperplasia, it was postulated that this molecular anormality could be more frequent than previously described. To validate this hypothesis, it was decided to study 150 multicenter consecutive patients, presenting with incidentally discovered bilateral adrenal masses without clinical signs of Cushing's disease. In all these patients GR gene will be studied, mutations will be detected and described, functional disturbance will be tested. Usual polymorphisms will be described. Correlation between clinical signs, hormonal and morphological abnormalities and presence or absence of GR mutations will be searched.

Enrollment: 150 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• patients more than 18 years of age
• patients with bilateral adrenal masses

Exclusion criteria

• Refusing to participate in the study
• Protected by law
• Have obvious signs of Cushing's syndrome
• No progressive neoplastic disease

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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150 participants in 1 patient group

patient

Experimental group

Treatment:

Genetic: blood collection for mutation characterization