Song Zhixing, McMullin Jessica, Huls Forest, Rosenthal Richard, Bantu Sravani, Wu Christopher, Chen Herbert, Lindeman Brenessa
Department of Surgery, Section of Endocrine Surgery, University of Alabama at Birmingham, Birmingham, AL, USA.
Department of Surgery, University of Utah, Salt Lake City, UT, USA.
Clin Med Insights Endocrinol Diabetes. 2024 Oct 7;17:11795514241290125. doi: 10.1177/11795514241290125. eCollection 2024.
Hypercalcemia can result from either hyperparathyroidism or non-parathyroid conditions. When hypercalcemia is accompanied by undetectable parathyroid hormone (PTH) levels, hyperparathyroidism is rarely considered the diagnosis. Herein, we report the case of a 65-year-old Caucasian woman referred to our hospital for further evaluation of hypercalcemia. Her symptoms included fatigue and brain fog, with undetectable PTH levels. A comprehensive workup, including a series of laboratory and imaging tests, excluded common non-parathyroid causes such as malignancy and familial hypocalciuric hypercalcemia. Ultrasound identified a likely enlarged parathyroid gland, which was further confirmed by a sestamibi scan. After 2 weeks of cinacalcet treatment, the patient's calcium levels decreased, indicating the parathyroid gland as the likely source of hypercalcemia. Parathyroidectomy was subsequently performed, revealing a 1927 mg adenoma. Postoperatively, the patient's calcium levels normalized, PTH levels became detectable within the normal range, and her symptoms resolved, with a marked improvement in energy. This case demonstrates that primary hyperparathyroidism can present with hypercalcemia and undetectable PTH. A genetic mutation in the PTH gene within the adenoma may explain the undetectable PTH levels preoperatively.
高钙血症可由甲状旁腺功能亢进或非甲状旁腺疾病引起。当高钙血症伴有无法检测到的甲状旁腺激素（PTH）水平时，很少考虑诊断为甲状旁腺功能亢进。在此，我们报告一例65岁白种女性因高钙血症转诊至我院进一步评估的病例。她的症状包括疲劳和脑雾，PTH水平无法检测到。全面检查，包括一系列实验室和影像学检查，排除了常见的非甲状旁腺病因，如恶性肿瘤和家族性低钙血症性高钙血症。超声检查发现一个可能增大的甲状旁腺，锝[99mTc]甲氧基异丁基异腈（sestamibi）扫描进一步证实。西那卡塞治疗2周后，患者的钙水平下降，表明甲状旁腺可能是高钙血症的来源。随后进行了甲状旁腺切除术，发现一个1927毫克的腺瘤。术后，患者的钙水平恢复正常，PTH水平在正常范围内可检测到，她的症状得到缓解，精力有显著改善。该病例表明原发性甲状旁腺功能亢进可表现为高钙血症且PTH无法检测到。腺瘤内PTH基因的基因突变可能解释术前PTH水平无法检测到的原因。
