Endocrine Abstracts (2017) 49 EP282 | DOI: 10.1530/endoabs.49.EP282

Clinical presentations of four patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumor syndrome

Taner Bayraktaroglu1, Utku Sentosun1, Dilek Karakaya Arpaci1, Ali Ugur Emre2, Mertol Gokce3, Serkan Uysal3, Rabiye Uslu Erdemir4, Burak Bahadir5 & Guldeniz Karadeniz Cakmak2


1Bulent Ecevit University, Faculty of Medcine, Department of Internal Medicine, Division of Endocrinology and Metabolism, Zonguldak, Turkey; 2Bulent Ecevit University, Faculty of Medcine, Department of General Surgery, Zonguldak, Turkey; 3Bulent Ecevit University, Faculty of Medcine, Department of Chest Surgery, Zonguldak, Turkey; 4Bulent Ecevit University, Faculty of Medcine, Department of Nuclear Medicine, Zonguldak, Turkey; 5Bulent Ecevit University, Faculty of Medcine, Department of Medical Pathology, Zonguldak, Turkey.


Introduction: Primary hyperparathyroidism is commonly treated with targeted parathyroidectomy guided by preoperative imaging and intraoperative parathormone monitoring. Despite advanced imaging techniques, failure of parathyroid localization still occurs. Hyperparathyroidism-jaw tumor syndrome and familial isolated hyperparathyroidism are a rare autosomal dominant tumor syndrome characterized by hyperparathyroidism. In this report, we present four patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumor syndrome, below.

Case 1: A 26-year-old man with left maxillary tumoral lesion is referred. He had the elevated serum calcium and parathormon levels, osteoporosis, rena anomalia, nephrolitiasis, Acording to the diagnosis of hyperparathyroidism jaw-tumor syndrome, imaging modalities included neck sonography, scintigraphy, computerized tomography indicaed that a ectopic parathyroidal adenoma, then it was removed by videoscopic assisted medastinoscopy with temporarily hypoparathyroidism.

Case 2: A 43-year-old-man who is a relative of Case 1 is presented with persistent myalgia-arthralgia and nausea due to hypercalcemia caused by increased parathormon levels. Sonographic and scintigraphical evaluations of the neck showed that multiple irregular nodules of thyroid and suspected parathyroid adenomas. Fine neddle aspiration cytology of the nodules and pathological lymphadenopathy revealed a suspect of the low differentiated thyroidal carcinoma with lymphatic invasion. In wash-out sampling from suspected parathyroid adenoma, parathormon levels were increased. Total thyroidectomy with central and lateral neck dissection in addition adenomectomy with hungry bone syndrome.

Case 3: A 600-year-old-man who is in relations with Case 1 and Case 2 is complained with nausea-vomiting and lower back pain with osteoporotic fractures of left femur and left humerus. His serum levels of calcium and parathormon are highly increased. Imaging modalities showed a suspected lesion in the inferior region of the left thyroidal localization. After minimal invasive intervention and selective parathyroid sampling, the second operation included exploration and thyroidectomy with 3.5 paratyhroidectomy and implantation to sternocleidomastoid muscles were performed. Postoperatively, he had hypothyroidism with elevated serum calcium and parathormon levels. Thereafter hybrid nuclear modalities showed a suspected paratrakeal lesion, the case referred to reoperation with radioguided parathyroid surgery.

Case 4: The patient was a 51-year-old man (who is a brother of Case 3) presenting without any symptoms. He had hypercalcemia (12.2 mg/dl) and hyperparathyroidism (247 pg/ml). Parathyroid lesion detected with sonography and scintigraphical evaluations, and it is referred to minimal invasive parathyroid adenomectomy.

Conclusion: Primary hyperparathyroidism is a common clinical problem for which the only definitive management is surgery. Diagnosis of the familial primary hyperparathyroidism caused by CDC73 (formerly known as HRPT2) is based on the biochemical findings of primary hyperparathyroidism, identification of ossifying fibroma(s) of the maxilla and/or mandible on imaging studies, family history, and detection of a heterozygous germline CDC73pathogenic variant on molecular genetic testing. The spectrum of CDC73-related disorders includes hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism and parathyroid carcinoma, In familial primary hyperparathyroidism, reoperative parathyroidectomy are challenging entities that require special consideration and expertise.