Somatic HRPT2 Mutation (Arg234X) of Parathyroid Carcinoma Associated with Slipped Capital Femoral Epiphysis: A First Case Report
Sathit Niramitmahapanya MD*, Chaicharn Deerochanawong MD*, Veerasak Sarinnapakorn MD* Thongkum Sunthornthepvarakul MD*, Sarinee Pingsuthiwong MSc**, Pornake Athipan MD***, Yuthana Sangsuda MD****
Affiliation : * Department of Medicine, Rajavithi Hospital, College of Medicine, Rangsit University, Bangkok, Thailand ** Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand *** Department of Otolaryngology-head and neck, Rajavithi Hospital, College of Medicine, Rangsit University, Bangkok, Thailand **** Division of Nuclear Medicine, Department of Radiology, Rajavithi Hospital, College of Medicine, Rangsit University, Bangkok, Thailand
A 14-year-old boy was admitted to the orthopedic clinic of Rajavithi Hospital complaining of pain in the left hip. A year earlier, pain had developed in his left joint and had gradually increased in intensity in both hips. A month before he was referred, radiographs obtained at another hospital showed bilateral slipped capital femoral epiphysis (SCFE). The patient’s biochemical laboratory data showed hypercalcemia, hypophosphatemia, and a high level of intact parathyroid hormone (iPTH) compatible with primary hyperparathyroidism. HRPT2 gene analysis found heterozygosity for c.700 C>T mutation (Arg234X) of HRPT2 gene at exon 7. This is the first report in the literature about somatic mutation of the HRPT2 gene of parathyroid carcinoma associated with slipped capital femoral epiphysis.
Keywords : HRPT2, Parathyroid carcinoma, Slipped capital femoral epiphysis (SCFE)
