title: Autonomous hyperparathyroidism in X-linked hypophosphataemia.
abstract: Four patients with familial hypophosphataemic rickets developed significant hypercalcaemia which persisted after discontinuation of vitamin D therapy. They had increased PTH levels and were operated for hyperparathyroidism at the ages of 18, 20, 24 and 45 years, respectively. Three of the patients had previously received phosphate treatment and one patient developed hyperparathyroidism 7 years after treatment with calcitriol. Histological evaluation revealed different degrees of parathyroid hyperplasia in all patients, with persistently increased PTH and/or calcium levels after surgery. The possibility of autonomous hyperparathyroidism should be evaluated in the follow-up of patients with X-linked hypophosphataemic rickets.
authors.affiliation: Department of Endocrinology, Rikshospitalet, Oslo, Norway.
authors.forename: J
authors.initials: J
authors.lastname: Knudtzon
authors.forename: J
authors.initials: J
authors.lastname: Halse
authors.forename: E
authors.initials: E
authors.lastname: Monn
authors.forename: A
authors.initials: A
authors.lastname: Nesland
authors.forename: K P
authors.initials: KP
authors.lastname: Nordal
authors.forename: P
authors.initials: P
authors.lastname: Paus
authors.forename: M
authors.initials: M
authors.lastname: Seip
authors.forename: S
authors.initials: S
authors.lastname: Sund
authors.forename: G
authors.initials: G
authors.lastname: Sødal
mesh_terms: D000328:Adult; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D006934:Hypercalcemia / Q000209:etiology; D006961:Hyperparathyroidism / Q000097:blood / Q000150:complications*; D006965:Hyperplasia; D007015:Hypophosphatemia, Familial / Q000150:complications*; D008297:Male; D008875:Middle Aged; D010280:Parathyroid Glands / Q000473:pathology; D010281:Parathyroid Hormone / Q000097:blood; D014960:X Chromosome
chemical_list: D010281:Parathyroid Hormone