Up to 40% of pheochromocytomas (PCCs) and paragangliomas (PGLs) are hereditary. Germline mutations/deletions in fumarate hydratase ( FH ) cause hereditary leiomyomatosis and renal cell carcinoma syndrome which manifests predominantly with FH-deficient uterine/cutaneous leiomyomas and renal cell carcinomas (RCCs)-tumors characterized by loss of immunohistochemical (IHC) expression of FH and/or positive staining for S-(2-succino)-cysteine. Occasional patients develop PCC/PGL.
View Article and Find Full Text PDFAim: To audit short synacthen tests (SSTs) performed at a single laboratory within the greater Auckland area.
Methods: Two hundred and eighty-seven SSTs conducted in 286 individuals between September 2016 and September 2019 were assessed. Test requests were not triaged.
Endocrinol Diabetes Metab Case Rep
July 2020
A 23-year-old man presenting with florid Cushing's syndrome was found to have high plasma ACTH and very high serum prolactin. Pituitary MRI showed a large invasive macroadenoma. Low-dose cabergoline promptly suppressed both ACTH and prolactin levels within 2 weeks, with unexpected clinical and biochemical hypocortisolism requiring hydrocortisone replacement.
View Article and Find Full Text PDF