Department of Clinical and Experimental Medicine, University of Catania, Garibaldi-Nesima Medical Center, Catania, Italy.
Department of Nuclear Medicine, Humanitas Oncological Centre of Catania, Catania, Italy.
Front Endocrinol (Lausanne). 2023 Mar 14;14:1108278. doi: 10.3389/fendo.2023.1108278. eCollection 2023.
Parathyromatosis is a rare cause of primitive hyperparathyroidism characterized by the presence of numerous parathyroid tissue foci in the neck/mediastinum, due to hyperplasia of parathyroid embryologic residues (primary-form) or to local parathyroid tissue implantation (secondary-form). 63 cases have been described in the literature. In our patient parathyromatosis was due to a combination of two mutations.
A 36-years-old woman was diagnosed with osteoporosis secondary to primary hyperparathyroidism. Subsequent right parathyroidectomy showed a parathyroid adenoma. The follow-up was negative but after 10 years she had a relapse. The genetic screening showed a rare intronic mutation of the MEN1 gene and a heterozygous mutation never described in exon 8 of the CASR gene, coding for the calcium receptor. Calcemia and PTH increased over the years with the onset of nephrocalcinosis and the worsening of osteoporosis despite the therapy with Cinacalcet, bisphosphonates and Vitamin D. She had therefore two additional surgical procedures (parathyroid tissue without malignancy). At follow-up she showed elevated levels of PTH (>1000 pg/ml) and calcium (11.2 mg/dl) and CT scans multiple subcentimetric nodules in the neck/upper mediastinum. Since the Ga-DOTATATE showed an increased uptake in the neck/mediastinum, lanreotide was added. After two months there was a significant biochemical response but, unfortunately, after six months, the patient showed a new worsening.
a rare case of parathyromatosis due to a combination of two genetic alterations never described. The main issues concern the diagnosis and the radical treatment. Somatostatin analogues may have a useful role in both diagnosis and therapy.
甲状旁腺腺瘤病是一种罕见的原发性甲状旁腺功能亢进症的病因，其特征是颈部/纵隔内存在多个甲状旁腺组织病灶，这是由于甲状旁腺胚胎残留物增生（原发性形式）或局部甲状旁腺组织植入（继发性形式）所致。文献中已经描述了 63 例病例。在我们的患者中，甲状旁腺腺瘤病是由两种突变共同引起的。
一名 36 岁女性因原发性甲状旁腺功能亢进症继发骨质疏松症而被诊断。随后的右侧甲状旁腺切除术显示甲状旁腺腺瘤。随访结果为阴性，但 10 年后复发。基因筛查显示 MEN1 基因罕见的内含子突变和 CASR 基因外显子 8 中的杂合突变，该基因编码钙受体。血钙和 PTH 水平随着时间的推移而升高，出现肾钙质沉着症和骨质疏松症恶化，尽管接受了西那卡塞、双膦酸盐和维生素 D 治疗。因此，她又进行了两次手术（无恶性肿瘤的甲状旁腺组织）。随访时，她的 PTH（>1000pg/ml）和钙（11.2mg/dl）水平升高，颈部/上纵隔 CT 扫描显示多个亚厘米结节。由于 Ga-DOTATATE 在颈部/纵隔显示摄取增加，添加了兰瑞肽。两个月后，生化反应显著，但不幸的是，六个月后，患者出现新的恶化。
这是一例罕见的甲状旁腺腺瘤病病例，由两种从未描述过的遗传改变共同引起。主要问题涉及诊断和根治性治疗。生长抑素类似物在诊断和治疗方面可能具有有用的作用。
