title: Primary hyperparathyroidism from a probable ectopic parathyroid adenoma with severe skeletal disease and vitamin D deficiency.
abstract: Primary hyperparathyroidism (PHPT) may lead to skeletal deformities, fractures and renal failure in symptomatic patients if untreated. We present a case of a 30-year-old woman presented with muscle weakness, weight loss, hypercalcaemia and a pathological fracture, eventually with rapidly progressive musculoskeletal disease. Subsequent biochemical, radiographic and scintigraphy findings were consistent with PHPT from an ectopic mediastinal adenoma, and concomitant vitamin D deficiency. The severe hypercalcaemia was adequately temporised with hydration, forced diuresis and intravenous bisphosphonates. Removal of the adenoma by video-assisted thoracoscopic surgery was contemplated; however, consent was withdrawn precluding histological confirmation. A review of literature shows the changing profiles of patients with PHPT, the uncommon occurrence of parathyroid adenomas in ectopic locations and possible association between severity of PHPT and vitamin D status.
authors.affiliation: Department of Medicine; Section of Endocrinology, Diabetes and Metabolism, University of the Philippines, Philippine General Hospital, Manila, NCR, Philippines.
authors.forename: Carlo Jan P
authors.initials: CJ
authors.lastname: Garingarao
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Paz-Pacheco
authors.forename: Cecilia A
authors.initials: CA
authors.lastname: Jimeno
mesh_terms: D000236:Adenoma / Q000150:complications / Q000175:diagnosis*; D000328:Adult; D002828:Choristoma / Q000150:complications / Q000175:diagnosis; D017809:Fatal Outcome; D005260:Female; D005264:Femoral Fractures / Q000000981:diagnostic imaging / Q000209:etiology*; D005598:Fractures, Spontaneous / Q000000981:diagnostic imaging / Q000209:etiology*; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000150:complications / Q000175:diagnosis*; D008477:Mediastinal Diseases / Q000150:complications / Q000175:diagnosis; D018908:Muscle Weakness / Q000209:etiology; D010280:Parathyroid Glands; D010282:Parathyroid Neoplasms / Q000150:complications / Q000175:diagnosis*; D011859:Radiography; D014808:Vitamin D Deficiency / Q000175:diagnosis / Q000209:etiology*