Evolution of clinical features, laboratory data and radiological image of patients with Primary Macronodular Adrenal Hyperplasia carriers and no carriers of ARMC5 mutations

• Grant number: 15/14487-4
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: November 01, 2015
• End date: October 31, 2017
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Maria Candida Barisson Villares Fragoso
• Grantee: Patrícia Queilla Souza Lima de Almeida
• Host Institution: Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

Primary Macronodular Adrenal Hyperplasia (PMAH) is one of the causes of Cushing's syndrome. It is characterized by the presence of functioning in the adrenal benign macronodules (usually> 1 cm) and sustained by increased production of cortisol, independent of circulating ACTH pituitary. The PMAH may present sporadically or be inherited (familial) with clinical manifestation mainly between 40 and 60 years of age, usually slow progression, with subclinical Cushing's syndrome its most common form. Recently, an increased prevalence (~ 43%) of intracranial meningiomas in patients with the disease has been demonstrated. Importantly, the natural history of PMAH is still not well understood. It is known, for example, not necessarily all patients evolve into classic Cushing's syndrome (manifest) over the years. Recently, it was demonstrated that inactivating mutations of the gene armadillo repeat containing protein 5 (ARMC5 gene) are the most frequent cause of PMAH. Demonstration of somatic mutation in a second gene ARMC5 in hyperplastic adrenal tissue, suggests that the gene may act as a tumor suppressor, although the role played by the same need to be better studied. This work has as main objective to characterize the evolution of clinical, laboratory and radiological of patients with PMAH carriers and non-carriers of the mutation in ARMC5 seen in the ambulatory of Suprarenal Unit of Endocrinology and Metabolism Service, Hospital das Clinics, Faculty of Medicine, University of São Paulo.