Introduction: A 30-year-old female patient with inherited osteogenesis imperfecta (OI) Type 1 was referred due to hypercalcaemia and suspicion of primary hyperparathyroidism (pHPT). She had serum ca2+ 1.56 mmol/L, serum parathyroid hormone 115 ng/ml (< 70), and pHPT was diagnosed, but no scan uptake. By exploratory neck surgery, all parathyroid glands were hyperplastic and 3 ½ parathyroid + thymus were removed. The HPT was hypothesised to be due to abnormal calcium metabolism from OI (J Endocrinol Invest 1999), although not described previously.
Conference: 9th Annual ENETS Conference (2012)
Presenting Author: Professor Ulla Feldt-Rasmussen