Genetic Testing in a Patient With Suspected Hyperparathyroidism- Jaw Tumor Syndrome (HPT-JT)
نویسندگان
چکیده
منابع مشابه
Multiple myeloma in a patient with suspected hyperparathyroidism
Multiple myeloma (MM) is a clonal B-lymphocyte neoplasm of terminally differentiated plasma cells. Imaging modalities which allow the recognition of the effects of myeloma cells on the skeletal system have been utilized for a long time. Herein, we represent a patient with generalized osteoporosis and hypercalcemia, who was referred for parathyroid scan, in whom the widespread bone marrow techne...
متن کاملHyperparathyroidism-jaw tumor syndrome.
BACKGROUND Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a rare autosomal dominant multiple tumor syndrome characterized by hyperparathyroidism due to single or multiple-gland parathyroid tumor(s). Since it was first described in 1990, the genetics underlying the syndrome have been elucidated and typical clinical presentations are becoming clarified as literature describing this rare entit...
متن کاملHyperparathyroidism-jaw tumor syndrome: a case report.
We report the clinical and genetic findings in a 23-year-old woman with hyperparathyroidism-jaw tumor syndrome (HPT-JT). The patient had a family history of primary hyperparathyroidism (PHPT) and uterine fibroma in her mother. The patient presented muscle weakness. The diagnosis of PHPT was confirmed by an elevated parathyroid hormone level above 1450 pg/ml with hypercalcemia and hypercalciuria...
متن کاملHyperparathyroidism-jaw tumour syndrome detected by aggressive generalized osteitis fibrosa cystica.
Severe hyperparathyroidism can affect bone metabolism and be in the origine of multiple brown tumours (generalized osteitis fibrosa cystica). When associated with fibro-ossifying tumours of the jaw, it realizes a rare genetic syndrome referred as Hyperparathyroidism-jaw tumour HPT-JT. We report the case of a patient we treated for HPT-JT, and literature review.
متن کاملHyperparathyroidism-Jaw Tumor Syndrome Associated With Large-Scale 1q31 Deletion
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal dominant cause of familial hyperparathyroidism associated with benign, ossifying fibromas of the maxillofacial bones and increased risk of parathyroid carcinoma. The putative tumor suppressor gene CDC73 has been implicated in the syndrome, with a multitude of inactivating mutations identified; however, HPT-JT due to large-scale...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2021
ISSN: 2472-1972
DOI: 10.1210/jendso/bvab048.396