Transcriptomics, Epigenetics, and Metabolomics of Primary Aldosteronism

Introduction: Primary aldosteronism (PA) is the most common cause of endocrine hypertension, mainly caused by aldosterone-producing adenomas or hyperplasia; understanding its pathophysiological background is important in order to provide ameliorative treatment strategies. Over the past several years, significant progress has been documented in this field, in particular in the clarification of the genetic and molecular mechanisms responsible for the pathogenesis of aldosterone-producing adenomas (APAs). Methods: Systematic searches of the PubMed and Cochrane databases were performed for all human studies applying transcriptomic, epigenetic or metabolomic analyses to PA subjects. Studies involving serial analysis of gene expression and microarray, epigenetic studies with methylome analyses and micro-RNA expression profiles, and metabolomic studies focused on improving understanding of the regulation of autonomous aldosterone production in PA were all included. Results: In this review we summarize the main findings in this area and analyze the interplay between primary aldosteronism and several signaling pathways with differential regulation of the RNA and protein expression of several factors involved in, among others, steroidogenesis, calcium signaling, and nuclear, membrane and G-coupled protein receptors. Distinct transcriptomic and metabolomic patterns are also presented herein, depending on the mutational status of APAs. In particular, two partially opposite transcriptional and steroidogenic profiles appear to distinguish APAs carrying a KCNJ5 mutation from all other APAs, which carry different mutations. Conclusions: These findings can substantially contribute to the development of personalized treatment in patients with PA.

Endocrine disorders

Diabetes mellitus, Management of diabetes mellitus, Diabetes in children and adolescents, Hypothyroidism, Hyperthyroidism, Enlarged Thyroid Gland (Goitre), Pituitary dysfunction, Endocrine hypertension, Pheochromocytoma and paraganglioma, Cushing's syndrome, Gynaecomastia, Hypoadrenalism, Hypercalcaemia, Hypocalcaemia, Hyperkalaemia, Hypokalaemia, Hyponatraemia, Hypernatraemia

Spectrum of adrenal disorders in a referral hospital of Bangladesh

Background: Adrenal diseases are common and their presentations are variable. This study aimed to determine the frequency and presenting features of various adrenal diseases in a tertiary care hospital of Bangladesh. Methods: This retrospective descriptive study was carried out in Endocrinology in-patient department of BIRDEM General Hospital, Dhaka, Bangladesh, from October 2017 to December 2018. During this time, total 745 patients were screened; out of whom 91 had adrenal diseases. Results: Mean age of the study population was 39.6±11.5 years. Among them, 65.9% were male. Most (75.8%) cases had adrenal insufficiency, followed by endogenous Cushing’s syndrome (8.8%), Conn’s syndrome (6.6%), non-functioning adenoma (3.3%), congenital adrenal hyperplasia (CAH) (2.2%), pheochromocytoma (1%), myelolipoma (1%) and adrenal carcinoma (1%). According to functional status, most (75.8%) were hypofunctional. Of the patients with adrenal insufficiency, secondary adrenal insufficiency was the most common (78.3%). Among the secondary adrenal insufficiencies, 75.9% had iatrogenic adrenal insufficiency and 24.1% had pituitary diseases. Regarding the cases of primary adrenal insufficiency, 20% cases were due to adrenal tuberculosis, 6.6% were due to adrenal histoplasmosis and 73.3% were idiopathic. Most of the adrenal insufficiency patients presented with hypotension (66.7%), followed by gastrointestinal symptoms (76.8%), weight loss (55.1%), hyponatraemia (42%), pigmentation (13%) and hypoglycemia (10%). In this study, 9.9% patients had adrenal incidentaloma. Most of them (88.9%) were benign. Causes of Cushing’s syndrome among the study population were, iatrogenic (66.7%), adrenal (16.7%) and pituitary cause (16.7%). In this study, 16.5% patients had endocrine hypertension and the causes were endogenous Cushing’s syndrome (53.3%), Conn’s syndrome (40%) and pheochromocytoma (6.7%). Of the hypertensive patients, 60% had co-existing hypokalemia. Conclusion: Adrenal insufficiency was the most common adrenal disorder followed by endogenous Cushing’s syndrome, Conn’s syndrome, non-functioning adenoma and other adrenal disorders. Presentations of adrenal disorders are variable. Among the cause of adrenal insufficiency iatrogenic adrenal insufficiency was the most common. Birdem Med J 2021; 11(2): 103-107