Endocrine Abstracts

Background: The enzyme succinate dehydrogenase (SDH) functions in the citric acid cycle and loss of function of this enzyme can lead to the development of phaeochromocytoma/paraganglioma (PPGL), gastrointestinal stromal tumour (GIST) and renal cell carcinoma. A germline mutation in one of the four genes (SDH-A/B/C/D) encoding the SDH complex is the most common mechanism of SDH inactivation causing SDH deficiency and is routinely screened for...

Background: International consensus supports interval biochemical and imaging surveillance for all asymptomatic carriers of succinate dehydrogenase (SDHx) gene mutations and patients with a history of SDH deficient tumours. There is growing awareness that the life time penetrance of the SDHx genes is much lower than that originally estimated and that long term radiological surveillance carries a significant risk including ionizing radiation exposure and incidental findings. Th...

Section 1: Case history: A 38 year old female was identified as carrying a heterozygous pathogenic MEN1 variant (c.13404delG) through predictive testing, following a diagnosis of familial hyperparathyroidism.Section 2: Investigations: Routine screening for hyperparathyroidism and pituitary disease was negative. However, a CT thorax–abdomen–pelvis revealed a 41 mm pancreatic tail mass. Biopsy via endoscopic ultrasound confirmed a well-d...

Recent discoveries in mutations in TCA cycle enzymes; succinate dehydrogenase (SDH), fumarate hydratase (FH), iso-citrate dehydrogenase (IDH) and malate dehydrogenase MDH2, have reinforced the link between mitochondrial dysfunction and cancer1. Phaeochromocytoma and paraganglioma (PPGL) are now recognised to be the most heritable tumour, with 40%1 having a genetic defect. Mutations in the SDH genes are the most frequently implicated genetic abnor...