Searchable abstracts of presentations at key conferences in endocrinology

ea0077cc2 | (1) | SFEBES2021

Familial hypocalciuric hypercalcaemia (FHH) type 3: A rare cause of parathyroid (PTH) dependent hypercalcaemia with associated learning disabilities and behavioural problems

Shah Najeeb , Amjad Masroor , Benamer Sufyan , Deshmukh Harshal , Sathyapalan Thozhukat , Mohammed Kamrudeen

Case: A 25-year-old male with a history of Asperger’s syndrome, not on regular medication, with no family history of endocrinopathy; was referred with mild hypercalcaemia found during routine investigations for fatigue, weight loss, diarrhoea and vomiting. A normal PTH suggested PTH-dependent hypercalcaemia. There was no history of fractures or nephrolithiasis. DEXA scan showed normal bone mineral density (femur, spine and forearm). The gastrointestinal symptoms and fatig...