Endocrine Abstracts

The first patient with a catecholamine-secreting paraganglioma that was sucessfully resected was in 1926. Over the past 97 years, there has been a dramatic evolution in the clinical presentation, methods used to diagnose and localize, and germline genetic testing of paragangliomas (PGLs). When contrasted to adrenal pheochromocytoma, PGLs present the clinician with unique challenges, which include: 1) diverse location—they may be located anywhere from the tympanic membrane...

J Mol Endocrinol October 1, 2015 55 81–94. DOI: 10.1530/JME-15-0119...

Background: Multiple studies have shown that approximately 50-70% of patients with MEN1 die of causes directly related to MEN1 particularly gastroenteropancreatic (GEP) neuroendocrine tumors (NETs). While non-functional GEP-NETs are the most common in the general population, gastrinomas (40%) are the most common functional GEP-NETs in patients with MEN1. c-Met is a proto-oncogene that encodes for c-MET, a tyrosine kinase receptor which promotes tumor cell motility, proliferati...

Background: The presence of a genotype-phenotype correlation in patients with MEN1 remains controversial with conflicting data from different centers. Furthermore, about 10-30% patients have genotype-negative (GN)-MEN1. Here, we evaluate the presence of genotype-phenotype correlation in our cohort of comprehensively phenotyped patients with MEN1. In addition, we compare the phenotype of GN-MEN1 and genotype-positive (GP)-MEN1 patients and investigate somatic mosaicism as a cau...

BackgroundBenign adrenocortical tumours are found in 3–5% of adults and can be non-functioning (NFAT) or associated with cortisol excess. The latter group divides into patients with clinically overt signs (adrenal Cushing’s syndrome, CS) and patients lacking CS signs (mild autonomous cortisol excess, MACE). The 1 mg-overnight dexamethasone suppression test (DST) further differentiates MACE into MACE-1 (possible MACE; post-DST cortisol 50–1...

Background: The overwhelming majority of incidentally discovered adrenal tumours are benign adrenocortical adenomas. These can be non-functioning (NFAT) or associated with cortisol excess on a spectrum ranging from rare clinically overt adrenal Cushing’s syndrome (CS) to much more prevalent mild autonomous cortisol secretion (MACS) without signs of CS. The 1mg-overnight dexamethasone suppression test (DST) further differentiates MACS-1 (possible MACS; post-DST cortisol 50...

Background: Benign adrenal tumours are found in 3-10% of adults and can be non-functioning (NFAT) or associated with adrenal hormone excess. Analysing 1305 prospectively recruited patients with benign adrenal tumours, we recently demonstrated that 45% had mild autonomous cortisol secretion (MACS), i.e. biochemical cortisol excess without signs of Cushing’s syndrome (CS). MACS increases the prevalence and severity of hypertension and type 2 diabetes (Ann Int Med. 2022 Doi:...