Service d'endocrinologie et diabétologie, CHU Hédi Chaker, route de l'Ain, Sfax, Tunisia.
Ann Endocrinol (Paris). 2010 Mar;71(2):121-6. doi: 10.1016/j.ando.2009.09.004. Epub 2009 Nov 25.
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. X-ray radiographies showed a radiolucent lesion in the right body of the mandible. Bilateral neck exploration was performed. An inferior right parathyroidectomy, a left thyroid lobectomy with isthmectomy and thymectomy were carried out. Histopathological examination of the specimen showed a diffuse hyperplasia of the parathyroid principal cells. The association of PHPT with a right jaw tumor and uterine fibroma suggested the diagnosis of HPT-JT syndrome. Mutation screening of HRPT2 gene was carried out and identified a germline mutation, consisting in a base deletion in exon 1, 85delG, inducing a frameshift. The diagnosis of HPT-JT syndrome is clinically important because of its hereditary component and its high risk of parathyroid malignancy, making a genetic inquiry necessary.
我们报告了一位 23 岁女性患有甲状旁腺功能亢进-颌骨肿瘤综合征（HPT-JT）的临床和遗传发现。该患者的母亲有原发性甲状旁腺功能亢进症（PHPT）和子宫肌瘤的家族史。患者出现肌肉无力。甲状旁腺激素水平升高至 1450pg/ml 以上，伴有高钙血症和高钙尿症，确诊为 PHPT。X 射线影像学显示下颌骨右侧有一个透亮性病变。进行了双侧颈部探查。进行了右下甲状旁腺切除术、左甲状腺叶切除术伴峡部切除术和胸腺切除术。标本的组织病理学检查显示甲状旁腺主细胞弥漫性增生。PHPT 与右侧颌骨肿瘤和子宫肌瘤的关联提示 HPT-JT 综合征的诊断。进行了 HRPT2 基因突变筛查，并发现了一个胚系突变，即 85delG 碱基缺失，导致移码。HPT-JT 综合征的诊断具有临床重要性，因为其具有遗传性，并且甲状旁腺癌的风险很高，因此需要进行遗传咨询。
