甲状旁腺移植症是原发性甲状旁腺功能亢进罕见的原因之一，其特征在于颈部/纵隔存在大量甲状旁腺组织聚集体，由于甲状旁腺胚胎残余物增生（原发性）或局部甲状旁腺组织移植（继发性）。文献中描述了63例病例。我们的患者甲状旁腺移植症是由两种突变的组合导致的。一个36岁的女性被诊断为骨质疏松症继发于原发性甲状旁腺功能亢进症。随后进行了右侧甲状旁腺切除手术，发现了甲状旁腺腺瘤。随访结果为阴性，但十年后出现了复发。遗传筛查显示MEN1基因内罕见的内含子突变，以及编码钙受体的CASR基因外显子8中从未描述的杂合突变。尽管接受Cinacalcet、双磷酸盐和维生素D治疗，但血钙和PTH在多年后升高，出现肾结石和骨质疏松症恶化的症状。因此，她进行了两次额外的手术（甲状旁腺组织无恶性）。随访显示PTH（>1000 pg/ml）和钙（11.2 mg/dl）水平升高，并在颈部/上纵隔的CT扫描中观察到多个小于1厘米的结节。由于68Ga-DOTATATE在颈部/纵隔显示了增强的吸收，因此添加了Lanreotide。两个月后，出现了显著的生化反应，但不幸的是，六个月后，患者出现了新的恶化。这是由两种从未描述过的基因突变引起的罕见的甲状旁腺移植症病例。主要问题涉及诊断和根治性治疗。生长抑素类似物可能在诊断和治疗中都有用。Copyright © 2023 Sapuppo, Giusti, Aricò, Masucci, Tavarelli, Russo and Pellegriti.

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 68Ga-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.Copyright © 2023 Sapuppo, Giusti, Aricò, Masucci, Tavarelli, Russo and Pellegriti.