Wijewickrama Piyumi S A, Somasundaram Noel P
Endocrinology Unit, National Hospital of Sri Lanka, Colombo, Sri Lanka.
Case Rep Endocrinol. 2020 Mar 16;2020:9298147. doi: 10.1155/2020/9298147. eCollection 2020.
Primary hyperparathyroidism usually occurs secondary to parathyroid adenoma, multiglandular hyperplasia, or parathyroid carcinoma. The patients usually present with incidentally discovered high calcium level and systemic or skeletal manifestations. In young patients with primary hyperparathyroidism, familial syndromes including multiple endocrine neoplasia types 1, 2, and 4 and hyperparathyroidism jaw tumor syndrome should be considered. . We present a case of a 22-year-old Sri Lankan woman who presented with femur fractures in a background of childhood nephroblastoma and maxillary fibro-osseous tumor. The patient had biochemical parameters suggestive of primary hyperparathyroidism with a parathyroid mass. The histology following excision of the mass revealed a parathyroid adenoma. Based on the associated clinical manifestations, hyperparathyroidism jaw tumor syndrome was suspected, and genetic studies reported a positive CDC73 mutation with a whole-gene deletion of exon 1-17.
Hyperparathyroidism jaw tumor syndrome is an important diagnosis to consider in a young patient presenting with classic clinical features due to the risk of malignancy, familial involvement, and need to monitor for progressive systemic manifestations. As this is a rare disease, it can often be missed due to low degree of suspicion and the ability of the jaw tumor to mimic a metastatic deposit.
原发性甲状旁腺功能亢进症通常继发于甲状旁腺腺瘤、多腺体增生或甲状旁腺癌。患者通常表现为偶然发现的高钙血症以及全身或骨骼症状。对于原发性甲状旁腺功能亢进症的年轻患者，应考虑家族性综合征，包括多发性内分泌腺瘤1型、2型和4型以及甲状旁腺功能亢进症颌骨肿瘤综合征。我们报告一例22岁斯里兰卡女性患者，她在儿童期肾母细胞瘤和上颌骨纤维性骨瘤背景下出现股骨骨折。该患者的生化指标提示原发性甲状旁腺功能亢进症伴甲状旁腺肿块。肿块切除后的组织学检查显示为甲状旁腺腺瘤。基于相关临床表现，怀疑为甲状旁腺功能亢进症颌骨肿瘤综合征，基因研究报告CDC73突变阳性且外显子1至17全基因缺失。
由于存在恶性肿瘤风险、家族性累及以及需要监测进行性全身症状，甲状旁腺功能亢进症颌骨肿瘤综合征是年轻患者出现典型临床特征时需要考虑的重要诊断。由于这是一种罕见疾病，常常因怀疑程度低以及颌骨肿瘤可能酷似转移性沉积物而被漏诊。
