Endocrine Abstracts

Background: Plasma normetanephrine levels are an annual screening tool for detecting paragangliomas in SDHB mutation carriers. Sensitivity is increased when patients are fasting and recumbent prior to phlebotomy, to allow use of age-adjusted reference ranges rather than the 1180 pmol/l upper limit for ambulatory patients of any age. We present our clinic’s results of samples taken after 30 minutes of recumbency to determine if applying age-adjusted ranges...

Mutations in each of the 4 subunits of succinate dehydrogenase (SDH) – SDHA, B, C and D predispose to development of phaeochromocytomas and paragangliomas. Loss of SDH function leads to accumulation of succinate which acts as an oncometabolite to drive tumourigenesis. However, mutations in SDHB have an increased likelihood of causing metastatic disease, compared to mutations in the other SDH subunits. The reasons behind this increased risk remai...

Loss of function of succinate dehydrogenase (SDH), caused by mutations in each of the 4 subunits – SDHA/B/C and D – is associated with development of phaeochromocytomas and paragangliomas (PPGLs). The mutations lead to loss of enzymatic activity and subsequent accumulation of the oncometabolite succinate, a driver of tumourigenesis. It is well established but poorly understood why mutations in SDHB are associated with more aggressi...

Nelson’s syndrome (NS) is a potentially severe complication following bilateral adrenalectomy for Cushing’s disease (CD). Series assessing outcomes of treatments for NS are limited by small sample size, often short follow-up and variability of success criteria. We performed a UK multi-centre study aiming to review outcomes of primary treatment for NS. Clinical, laboratory, imaging data were collected. Kaplan-Meier method, log-rank test, Cox regression analysis were u...