title: An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene.
abstract: A 13-yr-old boy who complained of persistent nausea, vomiting and weight loss had hypercalcemia and an elevated intact PTH level. Computed tomography confirmed two tumors in the thyroid gland. The tumors were surgically removed and pathologically confirmed as parathyroid adenoma. Because his maternal aunt and grandmother both had histories of parathyroid tumors, genetic investigation was undertaken for him, and a germline frameshift mutation of the CDC73 gene was identified. CDC73 gene analysis should be done on individuals who are at risk of familial hyperparathyroidism, including those who are asymptomatic, and they should be followed for potential primary hyperparathyroidism and associated disorders including resultant parathyroid carcinoma.
authors.affiliation: Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Takako
authors.initials: T
authors.lastname: Takeuchi
authors.affiliation: Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Yoto
authors.affiliation: Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Tsugawa
authors.affiliation: Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Hotaka
authors.initials: H
authors.lastname: Kamasaki
authors.affiliation: Department of Otolaryngology, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kondo
authors.affiliation: Department of Surgical Pathology, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Jiro
authors.initials: J
authors.lastname: Ogino
authors.affiliation: Department of Surgical Pathology, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Hasegawa
authors.affiliation: Department of Radiology Oncology, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Naoya
authors.initials: N
authors.lastname: Yama
authors.affiliation: Department of Pediatrics, Kinikyo Fushiko Jujo Clinic, Sapporo, Japan.
authors.forename: Sawa
authors.initials: S
authors.lastname: Anan
authors.affiliation: Department of Surgery, Noguchi Thyroid Clinic and Hospital Foundation, Beppu, Japan.
authors.forename: Shinya
authors.initials: S
authors.lastname: Uchino
authors.affiliation: Department of Medical Genetics, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Aki
authors.initials: A
authors.lastname: Ishikawa
authors.affiliation: Department of Medical Genetics, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Sakurai
authors.affiliation: Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Tsutsumi
keywords: CDC73; hypercalcemia; primary hyperparathyroidism