title: Parathyroid adenoma in a patient with familial hypocalciuric hypercalcaemia.
abstract: A 57-year-old man with symptoms of fatigue, joint pains and insomnia was found to have hypercalcaemia secondary to hyperparathyroidism with a corrected calcium of 2.61 mmol/L (2.2-2.6 mmol/L) and a serum parathyroid hormone (PTH) of 86 pg/mL (10-65 pg/mL). Preoperative workup demonstrated a parathyroid adenoma in the right upper position and he proceeded to surgery. Postoperatively, however, his symptoms remained unchanged and the corrected calcium remained elevated at 2.87 mmol/L with a PTH of 59 pg/mL. He had no family history of hypercalcaemia. Further investigations revealed low 24 h urinary calcium level and a low urine calcium to creatinine ratio. Genetic testing revealed a mutation in exon 4 of the calcium sensing receptor (CaSR) confirming a diagnosis of familial hypocalciuric hyercalcaemia (FHH). The case is an example of a rare phenomenon when a parathyroid adenoma develops in patients with FHH.
authors.affiliation: Department of Endocrinology, Beaumont Hospital, Dublin, Ireland.
authors.forename: Hannah Elizabeth
authors.initials: HE
authors.lastname: Forde
authors.affiliation: Department of Surgery, Beaumont/RCSI, Dublin 9, Ireland.
authors.forename: Arnold D
authors.initials: AD
authors.lastname: Hill
authors.affiliation: Department of Surgery, Beaumont Hospital, Dublin, Ireland.
authors.forename: Diarmuid
authors.initials: D
authors.lastname: Smith
mesh_terms: D000236:Adenoma / Q000150:complications*; D005091:Exons / Q000235:genetics; D006801:Humans; D006934:Hypercalcemia / Q000150:complications / Q000151:congenital* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010282:Parathyroid Neoplasms / Q000150:complications*; D044169:Receptors, Calcium-Sensing / Q000235:genetics
chemical_list: D044169:Receptors, Calcium-Sensing