Endocrine Abstracts

Introduction: Familial hypocalciuric hypercalcaemia (FHH) is commonly caused by mutations in the CASR gene, less commonly in AP2S1 and rarely in GNA11. Only four FHH-associated loss-of-function variants have been reported in GNA11 to date.Clinical Case: A 30-year-old woman investigated for migraines and paraesthesia in hands and feet was noted to have ionised calcium of 1.38 mmol/l (ref 1.15-1.33 mmol/l), PTH of 5.6 pmol/l (ref 1.6-6.9 pmol/l), and 25-hy...