Searchable abstracts of presentations at key conferences in endocrinology

ea0038p12 | Bone | SFEBES2015

Familial hypocalciuric hypercalcaemia due to AP2S1 mutation in a patient with failed parathyroidectomies: a case report

Chinnasamy Eswari , Hurley Paul , Snape Katie , Bano Gul

Familial hypocalciuric hypercalcaemia (FHH) is a rare condition and can be mistaken for primary hyperparathyroidism (PHPT). Distinguishing this from the later is vital to avoid un-necessary surgery as this is a benign condition. Ca:Cr excretion ratio >0.01 in a spot urine is widely used to rule out FHH. However this was calculated from 24 h urine samples on the original studies.We present a case of 46-year-old lady who presented with symptomatic hype...