title: A case of tuberous sclerosis complex with concomitant primary hyperparathyroidism due to parathyroid adenoma: a case report.
abstract: The patient was a 27-year-old woman who was clinically diagnosed with tuberous sclerosis complex (TSC). She developed hypercalcemia and hypophosphatemia at age 23. In a detailed examination at age 26, she was diagnosed with primary hyperparathyroidism due to parathyroid adenoma. After undergoing parathyroidectomy, her hypercalcemia and hypophosphatemia rapidly normalized. Subsequent genetic testing revealed mutations of the TSC1 gene. TSC with concomitant parathyroid adenoma is extremely rare; only three cases have been reported worldwide. However, each of these cases was diagnosed clinically. Therefore, our case is the first to be diagnosed with genetic testing.
authors.affiliation: Department of Pediatrics, Chubu Tokushukai Hospital, Teruya 3-20-1, Okinawa City, Okinawa Prefecture, 904-8585, Japan. sinzato@cyutoku.or.jp.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Shinzato
authors.affiliation: Department of Surgery, Chubu Tokushukai Hospital, Teruya 3-20-1, Okinawa City, Okinawa Prefecture, 904-8585, Japan. y-ikehara@cyutoku.or.jp.
authors.forename: Yasukazu
authors.initials: Y
authors.lastname: Ikehara
mesh_terms: D000236:Adenoma / Q000150:complications*; D000328:Adult; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis / Q000209:etiology / Q000601:surgery; D049950:Hyperparathyroidism, Primary / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D009154:Mutation / Q000235:genetics; D016609:Neoplasms, Second Primary / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D010281:Parathyroid Hormone / Q000097:blood; D010282:Parathyroid Neoplasms / Q000150:complications*; D016105:Parathyroidectomy; D011379:Prognosis; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D010281:Parathyroid Hormone; C000624650:TSC1 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins