Roztoczyńska Dorota, Konturek Aleksander, Wędrychowicz Anna, Ossowska Magdalena, Kapusta Alicja, Taczanowska-Niemczuk Anna, Starzyk Jerzy B
Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Institute of Pediatrics, Jagiellonian University Medical College, Kraków, Poland.
Department of Endocrinological Surgery, 3rd Chair of Surgery, Jagiellonian University Medical College, Kraków, Poland.
Case Rep Pediatr. 2025 Jul 8;2025:2390925. doi: 10.1155/crpe/2390925. eCollection 2025.
Primary hyperparathyroidism (PHPT) is rare in children but exhibits a more dynamic course than in adults, often leading to multiorgan complications if diagnosis is delayed. This article aims to highlight diagnostic challenges of parathyroid adenomas in children and discuss associated complications from delayed diagnosis. Three boys, aged 15.5, 10, and 16 years, were retrospectively analyzed for hypercalcemia. The diagnosis was based on biochemical and hormonal tests, as well as imaging studies (ultrasound, scintigraphy, and densitometry). The mean diagnosis delay was 20 months (9-35). All boys experienced appetite loss and bone symptoms. Patient 1 was initially misdiagnosed with slipped capital femoral epiphysis (SCFE) and underwent orthopedic surgery without recognition of severe hypercalcemia. Patient 2 was misdiagnosed with vasopressin deficiency following a tibia fracture. Patient 3's symptoms were attributed to stress. All patients had parathyroid adenomas, but Patients 2 and 3 had an ectopic thymus location. Following adenoma excision, Patients 2 and 3 developed hypocalcemia, the lasting consequences of which included nephrocalcinosis and low bone mass; Patient 3 also developed hypertension and depression. Conclusions: (1) any child presenting symptoms such as loss of appetite, abdominal pain, weight loss, depression, or bone abnormalities must urgently have serum calcium levels assessed to exclude PHPT. (2) Delayed diagnosis of PHPT in children is dangerous, as it leads to irreversible organ damage, including severe bone loss, nephrocalcinosis, and hypertension. (3) Comprehensive hormonal and genetic evaluation prior to surgery is essential, along with prompt correction of hypocalcemia to minimize complications and improve treatment outcomes. (4) After parathyroid adenoma removal, intensive calcium and vitamin D supplementation is required to prevent hungry bone syndrome and support proper bone recovery. (5) Due to the significant risk of disease recurrence, children with PHPT require long-term endocrine follow-up and thorough genetic testing, enabling early detection of relapse and timely intervention.
原发性甲状旁腺功能亢进症（PHPT）在儿童中较为罕见，但与成人相比，其病程更为动态多变，如果诊断延迟，常常会导致多器官并发症。本文旨在强调儿童甲状旁腺腺瘤的诊断挑战，并讨论延迟诊断相关的并发症。回顾性分析了三名年龄分别为15.5岁、10岁和16岁的男孩的高钙血症情况。诊断基于生化和激素检测以及影像学检查（超声、闪烁扫描和骨密度测定）。平均诊断延迟时间为20个月（9 - 35个月）。所有男孩均出现食欲减退和骨骼症状。患者1最初被误诊为股骨头骨骺滑脱（SCFE），并在未意识到严重高钙血症的情况下接受了骨科手术。患者2在胫骨骨折后被误诊为血管加压素缺乏。患者3的症状被归因于压力。所有患者均患有甲状旁腺腺瘤，但患者2和患者3的腺瘤位于异位胸腺位置。腺瘤切除术后，患者2和患者3出现了低钙血症，其长期后果包括肾钙质沉着症和低骨量；患者3还出现了高血压和抑郁症。结论：（1）任何出现食欲减退、腹痛、体重减轻、抑郁或骨骼异常等症状的儿童都必须紧急评估血清钙水平，以排除PHPT。（2）儿童PHPT的延迟诊断很危险，因为它会导致不可逆转的器官损害，包括严重的骨质流失、肾钙质沉着症和高血压。（3）手术前进行全面的激素和基因评估至关重要，同时要及时纠正低钙血症，以尽量减少并发症并改善治疗效果。（4）甲状旁腺腺瘤切除后，需要强化补充钙和维生素D，以预防饥饿骨综合征并支持骨骼的正常恢复。（5）由于疾病复发风险很高，PHPT患儿需要长期的内分泌随访和全面的基因检测，以便早期发现复发并及时干预。
