منابع مشابه
Hyperparathyroidism-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 کاملPrimary hyperparathyroidism-jaw tumor syndrome: a confusing and forgotten diagnosis
BACKGROUND Primary hyperparathyroidism is caused by the excessive growth of parathormone secretion, its consequence being hypercalcemia. The parathyroid adenoma is responsible for over half of primary hyperparathyroidism cases. The mandibular tumor can be the initial sign in the case of primary hyperparathyroidism. CASE PRESENTATION We present the case of a 33 year old patient with history of...
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...
متن کاملPrimary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome
BACKGROUND Primary hyperparathyroidism (PHPT) is a relatively rare disorder among children, adolescents and young adults. Its development at an early age is suspicious for hereditary causes, though the need for routine genetic testing remains controversial. OBJECTIVE To identify and describe hereditary forms of PHPT in patients with manifestation of the disease under 40 years of age. DESIGN...
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ژورنال
عنوان ژورنال: Case Reports in Oncology
سال: 2021
ISSN: 1662-6575
DOI: 10.1159/000510002