Armc5 mutations are common in familial bilateral macronodular adrenal hyperplasia.

Conclusions: Our studies have detected ARMC5 mutations in four of five BMAH families tested, confirming that these mutations are a frequent cause of BMAH. Two of the four families had novel mutations, indicating allelic heterogeneity. Preclinical evaluation did not predict mutation status. The ARMC5 negative family had unusual prominent hyperaldosteronism. Further studies are needed to determine the penetrance of BMAH in ARMC5 mutation-positive relatives of affected patients, the practical utility of genetic screening and genotype-phenotype correlations. PMID: 24905064 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research

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Int J Mol Sci. 2022 Jan 8;23(2):673. doi: 10.3390/ijms23020673.ABSTRACTMild hypercortisolism is defined as biochemical evidence of abnormal cortisol secretion without the classical detectable manifestations of overt Cushing's syndrome and, above all, lacking catabolic characteristics such as central muscle weakness, adipose tissue redistribution, skin fragility and unusual infections. Mild hypercortisolism is frequently discovered in patients with adrenal incidentalomas, with a prevalence ranging between 5 and 50%. This high variability is mainly due to the different criteria used for defining this condition. This subtle c...
Source: Atherosclerosis - Category: Cardiology Authors: Source Type: research
We present the main outcomes of clinical trials of osilodrostat (Isturisa ®, Recordati) for Cushing disease, and its initial development as an aldosterone synthase inhibitor. Osilodrostat is indicated only when the surgical therapy of the pituitary adenoma is not an option or has not been curative; additionally, other steroidogenesis inhibitors were briefly summarized. C linical trials of osilodrostat in children are lacking and we describe its potential role in the pediatric population. KEY MESSAGES: Osilodrostat is the first adrenal steroidogenesis inhibitor to be EMA- and FDA-approved (both in 2020) for the treatmen...
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research
Intern Med. 2022;61(2):205-211. doi: 10.2169/internalmedicine.7418-21. Epub 2022 Jan 15.ABSTRACTWe herein report a case of Carney complex (CNC) complicated with primary pigmented nodular adrenocortical disease (PPNAD) after unilateral adrenalectomy. A 44-year-old woman was admitted to our hospital for PPNAD surgery. She had previously undergone surgery for cardiac myxoma and had a PRKAR1A mutation with no family history of CNC. She had Cushing's signs, but her metabolic abnormalities were mild. Adrenal insufficiency due to poor medication adherence was a concern, so she underwent unilateral adrenalectomy. Cushing's signs i...
Source: Internal Medicine - Category: Internal Medicine Authors: Source Type: research
PITTSBURGH, Jan. 13, 2022 -- (Healthcare Sales &Marketing Network) -- PANTHERx Rare announces that it has been selected by Xeris Pharmaceuticals, Inc., a wholly owned subsidiary of Xeris Biopharma Holdings, Inc., as the exclusive U.S. pharmacy distributi... Biopharmaceuticals, Distribution Xeris Pharmaceuticals, PANTHERx Rare, Recorlev, levoketoconazole, Cushing's
Source: HSMN NewsFeed - Category: Pharmaceuticals Source Type: news
CONCLUSION: A cardiometabolic risk condition, MACS predominantly affects women and warrants regular assessment for hypertension and type 2 diabetes.PRIMARY FUNDING SOURCE: Diabetes UK, the European Commission, U.K. Medical Research Council, the U.K. Academy of Medical Sciences, the Wellcome Trust, the U.K. National Institute for Health Research, the U.S. National Institutes of Health, the Claire Khan Trust Fund at University Hospitals Birmingham Charities, and the Mayo Clinic Foundation for Medical Education and Research.PMID:34978855 | DOI:10.7326/M21-1737
Source: Annals of Internal Medicine - Category: Internal Medicine Authors: Source Type: research
CONCLUSION: Due to the potential side effects of steroid drugs, clinicians should use these medications with caution and closely monitor the development of adrenal deficiency.PMID:34939910 | DOI:10.2174/1570162X19666210614124543
Source: Current HIV Research - Category: Infectious Diseases Authors: Source Type: research
CONCLUSION: The quantitative assessment (SII, ASR) of intracellular lipids in an incidentally discovered adrenal tumour could only help distinguish adrenal masses in case of adenomas or non-adenomas As initial diagnostic evaluation, clinical and laboratory assessment ,to distinguish hormone secretion, should be taken in all patients with adrenal incidentalomas.PMID:34931972 | DOI:10.2174/1871530322666211220111637
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - Category: Drugs & Pharmacology Authors: Source Type: research
CONCLUSIONS: Adrenal CS is associated with multiple comorbidities even after treatment, which necessitates meticulous postoperative care.PMID:34932806 | DOI:10.1210/clinem/dgaa752
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Source Type: research
CONCLUSION: The quantitative assessment (SII, ASR) of intracellular lipids in an incidentally discovered adrenal tumour could only help distinguish adrenal masses in case of adenomas or non-adenomas As initial diagnostic evaluation, clinical and laboratory assessment ,to distinguish hormone secretion, should be taken in all patients with adrenal incidentalomas.PMID:34931972 | DOI:10.2174/1871530322666211220111637
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - Category: Endocrinology Authors: Source Type: research
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