Ectopic adrenocorticotropic hormone (ACTH) syndrome is usually caused by pulmonary and bronchial tumors and rarely by pheochromocytoma. To date, the majority of ACTH-secreting pheochromocytomas have been unilateral, with the exception of two cases. A 54-year-old male presented with hypertension and bilateral adrenal tumors. The patient did not report having classic cushingoid features or experience of paroxysmal headaches or sweating, but presented with a slight abdominal obesity. The patient was clinically and pathologically diagnosed with bilateral ectopic ACTH-secreting pheochromocytomas. Whole-exome sequencing demonstrated that the 19 pheochromocytoma-related genes were unmutated. The pheochromocytomas on the two sides exhibited negative ACTH staining, but the ACTH concentration was markedly higher in the tumor tissue homogenates than in those tumors of another 3 patients with non-ACTH secretion pheochromocytoma. Electron microscopy identified two types of neuroendocrine cells in the tumor tissues. Primary culture of the pheochromocytoma cells revealed that ACTH secretion was inhibited by a mechanistic target of rapamycin inhibitor, AZD8055.
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http://dx.doi.org/10.3892/ol.2018.9210 | DOI Listing |
BMJ Open
December 2024
Clinical Medicine, School of Medicine and Population Health, The University of Sheffield, Sheffield, UK
Introduction: Cortisol is an essential stress hormone and failure of its production, known as adrenal insufficiency (AI), is associated with significant mortality due to adrenal crisis. The Short Synacthen Test (SST) is the current diagnostic test of choice for AI, but it is both invasive and resource intensive. Globally, there is an unmet need for a non-invasive, cost-effective test.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
M Health Fairview Masonic Children's Hospital, Minneapolis, Minnesota, USA.
Our objectives are to report on the outcomes of adrenal insufficiency (AI) and cerebral ALD (cALD) in children diagnosed with X-linked adrenoleukodystrophy (ALD) identified by newborn screening (NBS) in Minnesota in the first 5 years following initiation of NBS in 02/2017. A retrospective chart review was conducted for children diagnosed with ALD via Minnesota NBS from 02/06/2017 through 02/06/2022. Data reviewed included newborn screening data, diagnostic very long chain fatty acid levels, ABCD1 molecular testing results, serial measurements of ACTH and cortisol, and serial brain MRI results.
View Article and Find Full Text PDFGen Comp Endocrinol
January 2025
College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi 712100, China. Electronic address:
The melanocortin-3 receptor (MC3R) was recognized for its critical role in energy metabolism and inflammatory responses in mammals; however, its functions in fish remain poorly understood. This study characterized the mc3r gene in goldfish, investigating its sequence, tissue distribution, and pharmacological responses. The coding sequence of goldfish mc3r was 975 bp, translating to a 325-amino-acid protein typical of G protein-coupled receptors, with notable conservation across cyprinids.
View Article and Find Full Text PDFZhong Nan Da Xue Xue Bao Yi Xue Ban
July 2024
Department of Endocrinology &Metabolism, West China Hospital, Sichuan University, Chengdu 610041.
Cushing's disease is a rare endocrine disorder characterized by hypercortisolism. Chronic elevated cortisol levels can lead to dysfunction or complications in multiple organs of systems, including cardiovascular, glucose, and bone metabolism, severely impacting patients' quality of life and posing life-threatening risks. Surgery is the first-line treatment for Cushing's disease.
View Article and Find Full Text PDFContext: Some clinical resemblance may exist between obesity, particularly abdominal obesity, and Cushing's syndrome. This has stimulated ongoing interest in the role of cortisol's secretion pattern, control and metabolism in obesity.
Goals: To investigate whether basal and stimulated levels of cortisol differ between healthy people with obesity and individuals with normal weight Design: Total, free, and salivary cortisol were tested at baseline state and after 1 g ACTH stimulation in 60 healthy subjects with obesity and 54 healthy lean controls.
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