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A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature. J Pediatr Endocrinol Metab 2016 Sep 01;29(9):1005-12 PMID: 27544721

Pubmed ID



Parathyroid carcinoma is a rare cause of primary hyperparathyroidism amongst children, with only nine previously reported cases. The objective of the study was to present the first pediatric case with a germline CDC73 (formerly known as HRPT2) mutation, and to review the literature. A 14-year-old girl presented with pathologic slipped capital femoral epiphysis (SCFE). The patient was noted to have an elevated calcium level of 3.4 mmol/L (13.4 mg/dL), a parathyroid hormone (PTH) level of 1013 ng/L (1013 pg/mL), and a 3-cm palpable neck mass. Ultrasound and 99mTc-Sestamibi confirmed the suspicion of a parathyroid mass. Intraoperative findings and pathology confirmed the diagnosis of parathyroid carcinoma. Post-operative PTH decreased to 14 ng/L (14 pg/mL). Genetic testing showed a germline 70 G>T HRPT2/CDC73 mutation. This is the first case documenting a germline 70 G>T HRPT2/CDC73 gene mutation in a pediatric parathyroid carcinoma. Patients with sporadic parathyroid carcinoma may benefit from HRPT2/CDC73 gene mutation screening.

Author List

Serrano-Gonzalez M, Shay S, Austin J, Maceri DR, Pitukcheewanont P


Sophie G. Shay MD Assistant Professor in the Otolaryngology department at Medical College of Wisconsin


2-s2.0-84989345465   4 Citations

MESH terms used to index this publication - Major topics in bold

Germ-Line Mutation
Parathyroid Hormone
Parathyroid Neoplasms
Tumor Suppressor Proteins
jenkins-FCD Prod-271 16cb5dcaa6d2cfe4986875aea432578e3ad30554