Ray Gannon J, Liles Joe S, Lim Whei Ying
Department of Internal Medicine/Pediatrics, University of South Alabama, Mobile, Alabama.
Department of Surgery, University of South Alabama, Mobile, Alabama.
AACE Clin Case Rep. 2024 Feb 29;10(3):97-100. doi: 10.1016/j.aace.2024.02.008. eCollection 2024 May-Jun.
BACKGROUND/OBJECTIVE: Although common in adults, primary hyperparathyroidism (PHPT) is a rare condition in children with the most common etiology being solitary parathyroid adenoma (PTA). The typical presentation is symptomatic hypercalcemia. Management of PHTP secondary to PTA requires excision of the adenoma.
A 13-year-old adolescent boy presented because of orbital cellulitis and was noted to have hypercalcemia. Despite this, the patient was curiously asymptomatic. Further investigations yielded an elevated parathyroid hormone (PTH) level and a normal urine calcium-to-creatinine ratio making the most likely cause of hypercalcemia PHTP secondary to PTA. Imaging demonstrated PTA. The patient underwent parathyroidectomy with the pathology demonstrating PTA. Postoperatively, the PTH levels were undetectable; hence, the patient was treated with calcitriol and calcium supplementation for 1 month and 4 months, respectively. Genetic work-up for multiple endocrine neoplasia 1 and rearranged during transfection mutations was negative.
Solitary PTA is the most common cause of PHPT. Adenomas are mostly sporadic or may be a manifestation of an inheritable syndrome, such as multiple endocrine neoplasia. Although symptomatic disease is more common in children, our patient denied any hypercalcemia symptoms. The distinguishing biochemical feature of PHPT because of PTA is high or inappropriately normal PTH level in the context of high-normal or elevated serum calcium levels. Urinary calcium excretion is usually normal or high. PTAs are localized by ultrasound and Tc-99m-Sestamibi scintigraphy. Management includes parathyroidectomy and monitoring for postoperative hypocalcemia.
In a child or adolescent presenting with hypercalcemia and elevated PTH levels, it is important to consider PHPT secondary to PTA, because an early diagnosis will aid in preventing complications from hypercalcemia.
背景/目的：原发性甲状旁腺功能亢进症（PHPT）在成人中较为常见，但在儿童中是一种罕见疾病，最常见的病因是孤立性甲状旁腺腺瘤（PTA）。典型表现为有症状的高钙血症。由PTA引起的PHTP的治疗需要切除腺瘤。
一名13岁青少年男性因眼眶蜂窝织炎就诊，发现有高钙血症。尽管如此，该患者奇怪地没有任何症状。进一步检查发现甲状旁腺激素（PTH）水平升高，尿钙与肌酐比值正常，这使得高钙血症最可能的原因是继发于PTA的PHTP。影像学检查显示有PTA。患者接受了甲状旁腺切除术，病理检查证实为PTA。术后，PTH水平检测不到；因此，患者分别接受了1个月和4个月的骨化三醇和钙剂补充治疗。对多发性内分泌腺瘤1型和转染重排突变进行的基因检测结果为阴性。
孤立性PTA是PHPT最常见的病因。腺瘤大多是散发性的，也可能是可遗传综合征的表现，如多发性内分泌腺瘤。虽然有症状的疾病在儿童中更常见，但我们的患者否认有任何高钙血症症状。由PTA引起的PHPT的独特生化特征是在血清钙水平正常高值或升高的情况下，PTH水平高或不适当正常。尿钙排泄通常正常或升高。PTA通过超声和锝-99m-甲氧基异丁基异腈闪烁扫描进行定位。治疗包括甲状旁腺切除术以及监测术后低钙血症。
对于出现高钙血症和PTH水平升高的儿童或青少年，重要的是要考虑继发于PTA的PHPT，因为早期诊断有助于预防高钙血症的并发症。
