Weaver Travis D, Shakir Mohamed K M, Hoang Thanh D
Division of Endocrinology, Department of Medicine, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.
Case Rep Oncol. 2021 Feb 18;14(1):29-33. doi: 10.1159/000510002. eCollection 2021 Jan-Apr.
Primary hyperparathyroidism is a relatively common endocrine disorder, affecting 7 out of 1,000 adults. The median age at onset is the 6th decade of life. Our objective was to present a young patient with primary hyperparathyroidism who has a positive mutation. A 23-year-old woman was evaluated for hypercalcemia that was found after surgery for bilateral ovarian cyst removal. Her family history included multiple family members with nephrolithiasis. The physical examination revealed a well-appearing Caucasian woman with no palpable neck mass. The laboratory results showed serum calcium at 11.7 mg/dL (ref. 8.4-10.2), ionized calcium at 1.44 mmol/L (ref. 1.12-1.32), and serum PTH at 192 pg/mL (ref. 11-65). A technetium-99 sestamibi scan revealed focal uptake inferior to the left thyroid lobe. Thyroid ultrasound showed a left parathyroid adenoma. The patient subsequently underwent left inferior parathyroidectomy, which confirmed parathyroid adenoma, with resultant normalization of serum calcium and PTH levels. Due to her young age at diagnosis, genetic testing was performed, which revealed a mutation of . Although penetrance and expression are variable, the mutation is associated primarily with hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and sporadic parathyroid carcinoma. This patient currently has no evidence of jaw, uterine or renal tumors on screening imaging. Given the potential impact of inheritable neoplasia, all young patients with unexplained hyperparathyroidism should be considered for genetic screening.
原发性甲状旁腺功能亢进是一种相对常见的内分泌疾病，每1000名成年人中就有7人患病。发病的中位年龄为60岁。我们的目的是介绍一名患有原发性甲状旁腺功能亢进且存在阳性突变的年轻患者。一名23岁女性因双侧卵巢囊肿切除术后发现高钙血症而接受评估。她的家族史包括多名患有肾结石的家庭成员。体格检查显示该白种女性外观良好，未触及颈部肿块。实验室检查结果显示血清钙为11.7mg/dL（参考值8.4 - 10.2），离子钙为1.44mmol/L（参考值1.12 - 1.32），血清甲状旁腺激素为192pg/mL（参考值11 - 65）。锝-99甲氧基异丁基异腈扫描显示左甲状腺叶下方有局灶性摄取。甲状腺超声显示左侧甲状旁腺腺瘤。患者随后接受了左下甲状旁腺切除术，证实为甲状旁腺腺瘤，血清钙和甲状旁腺激素水平随之恢复正常。由于她诊断时年龄较小，进行了基因检测，结果发现一种突变。尽管外显率和表达情况各不相同，但这种突变主要与甲状旁腺功能亢进-颌骨肿瘤综合征、家族性孤立性甲状旁腺功能亢进以及散发性甲状旁腺癌有关。目前该患者在筛查影像学上没有颌骨、子宫或肾脏肿瘤的证据。鉴于遗传性肿瘤的潜在影响，所有不明原因的年轻甲状旁腺功能亢进患者都应考虑进行基因筛查。
