Danda Vijay Sheker Reddy, Kyatham Vivek, Paidipally Srinivas Rao, Palli Sharmila
Department of Endocrinology, Gandhi Medical College/Hospital, KNR University of Health Sciences, Hyderabad, Telangana 500003, India.
JCEM Case Rep. 2023 Aug 14;1(4):luad098. doi: 10.1210/jcemcr/luad098. eCollection 2023 Jul.
A 21-year-old woman presented with polyuria, fragility fractures, and a history of recurrent renal calculi, which was also present in her maternal aunt. Examination revealed an oval palpable mass in the neck. Biochemistry revealed a grossly elevated serum calcium, PTH, and serum alkaline phosphatase with low serum phosphorous, suggestive of primary hyperparathyroidism. Ultrasonography of the neck and parathyroid scintigraphy localized a large lesion arising from the right posterior and inferior aspect of the thyroid gland, suggesting a parathyroid tumor. Parathyroid carcinoma was suspected based on the severe clinical manifestations. A computed tomography scan of the abdomen revealed cysts in the kidneys, bilateral medullary nephrocalcinosis, left ectopic-pelvic kidney, and lytic lesions in the iliac bone. The patient underwent a right inferior parathyroidectomy with normalization of serum calcium postoperatively. Histopathologic examination revealed a parathyroid adenoma, which was contrary to the expectation. Whole exome sequencing in the index case revealed a novel 99-bp heterozygous insertion, likely pathogenic variant in the exon 2 of CDC73 gene causing hyperparathyroidism jaw tumor syndrome. Here, we report a rare case of hyperparathyroidism jaw tumor syndrome that presented with severe hypercalcemia, renal cysts, and an ectopic-pelvic kidney without jaw tumor or uterine abnormalities.
一名21岁女性出现多尿、脆性骨折以及复发性肾结石病史，其母亲的妹妹也有同样情况。检查发现颈部可触及椭圆形肿块。生化检查显示血清钙、甲状旁腺激素（PTH）和血清碱性磷酸酶显著升高，血清磷降低，提示原发性甲状旁腺功能亢进。颈部超声检查和甲状旁腺闪烁扫描显示甲状腺右后下方有一个大的病变，提示甲状旁腺肿瘤。基于严重的临床表现怀疑为甲状旁腺癌。腹部计算机断层扫描显示双肾囊肿、双侧髓质肾钙质沉着、左盆腔异位肾以及髂骨溶骨性病变。患者接受了右下甲状旁腺切除术，术后血清钙恢复正常。组织病理学检查显示为甲状旁腺腺瘤，这与预期不符。对该病例进行全外显子测序发现了一个新的99碱基对杂合插入，可能是CDC73基因第2外显子中的致病变异，导致甲状旁腺功能亢进颌骨肿瘤综合征。在此，我们报告一例罕见的甲状旁腺功能亢进颌骨肿瘤综合征病例，该病例表现为严重高钙血症、肾囊肿和盆腔异位肾，无颌骨肿瘤或子宫异常。
