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Clinical and molecular aspects of familial ACTH-independent macronodular adrenal hyperplasia

Abstract

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare clinical entity characterized by functional macronodules in both adrenal glands whose sustained, continuous and autonomous production of cortisol leads to endogenous Cushing's syndrome.In the majority of cases, AIMAH appears to be sporadic. However, in the last few years there have been twelve reports of familial clustering with the suggestion of an autosomal dominant pattern of transmission. Recently, two families were diagnosed with AIMAH in the Endocrinology of Development Unit at HCFMUSP.The physiopathology of AIMAH and its genetic background have not been clearly elucidated. The main hypothesis for the adrenal nodular enlargement and oversecretion of cortisol supports the role of illicit hormone receptors, ectopic or eutopic receptors of adrenal cortex that have become aberrantly coupled to steroidogenesis.Based on the study of both families with AIMAH we want to better understand the clinical evolution of the disease, correlate the clinical manifestations with laboratory and radiological findings and evaluate the real role of illicit hormone receptors in the initiation and development of AIMAH. Once we have defined the individuals with the disease in both genealogies, we will try to map the genetic locus responsible for AIMAH in the biggest family by performing a single-nucleotide polymorphism (SNP) genome-wide linkage study. The better understanding of the pathogenesis of AIMAH would have a deep impact in the diagnosis and therapy of the disease. (AU)

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
CAVALCANTE, ISADORA PONTES; NOGUEIRA ZERBINI, MARIA CLAUDIA; ALENCAR, GUILHERME ASMAR; MARIANI, BEATRIZ DE PAULA; BUCHPIGUEL, CARLOS ALBERTO; ALMEIDA, MADSON QUEIROZ; MENDONCA, BERENICE BILHARINHO; BARISSON VILLARES FRAGOSO, MARIA CANDIDA. High 18F-FDG uptake in PMAH correlated with normal expression of Glut1, HK1, HK2, and HK3. ACTA RADIOLOGICA, v. 57, n. 3, p. 370-377, . (10/12702-1)
ALENCAR, GUILHERME ASMAR; LERARIO, ANTONIO MARCONDES; NISHI, MIRIAN YUMIE; DE PAULA MARIANI, BEATRIZ MARINHO; ALMEIDA, MADSON QUEIROZ; TREMBLAY, JOHANNE; HAMET, PAVEL; BOURDEAU, ISABELLE; NOGUEIRA ZERBINI, MARIA CLAUDIA; ALBERGARIA PEREIRA, MARIA ADELAIDE; et al. ARMC5 Mutations Are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 99, n. 8, p. E1501-E1509, . (10/12702-1)

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