Endocrine Abstracts

Glycogen storage disease 1A (GSD1A) is an inherited metabolic disorder caused by glucose-6-phosphatase (G6PC) deficiency. Patients with GSD1A present disturbed glucose homeostasis and exhibit glycogen accumulation accompanied by hepatomegaly, hypoglycemia, lactic acidosis and hyperlipidemia. However, there are currently no licensed treatments for GSD1A, and human in vitro systems for disease modelling and drug screening are lacking. We aimed to develop a human hepatoc...

A 65-year-old Afro-Caribbean gentleman, with a >10-year history of hypertension, frequently recorded blood pressures of >160/80 mmHg. His serum electrolytes showed Na+ 145 mmol/l and K+ 3.2 mmol/l. MRI demonstrated 13 mm left medial-limb adrenal adenoma. His hypertension was uncontrolled on treatment with amlodipine 10 mg OD, spironolactone 50 mg OD, losartan100 mg OD and doxazosin 16 mg OD. Although his quality of life was reduced, and he dislike...