Abstract：
BACKGROUND: Pseudohypoparathyroidism (PHP) refers to a group of rare hereditary disorders associated with resistance to parathormone (PTH) and other hormones now termed inactivating PTH/PTHrP disorders (iPPSD). Hypercalcitoninemia has been seldom reported in small series. Our aim was to investigate the characteristics of hypercalcitoninemia in paediatric and adult patients with PHP/iPPSD.
METHODS: We retrospectively collected data from two cohorts from two European Endocrinology tertiary centers: the paediatric cohort comprised 88 children with available calcitonin (CT) measurements; the adult cohort included 43 individuals with simultaneous CT and PTH measurements.
RESULTS: In the paediatric cohort 65.9% had hypercalcitoninemia (median CT 15 ng/L); in the adult cohort 53.5% (mean CT 21.6 ng/L). There was no difference between CT in paediatric and adult population; we observed stable CT levels over a median follow-up of 134.5 months in adults. Notably, no correlations were detected between CT and PTH levels. Other etiologies of hypercalcitoninemia were excluded, adult patients underwent regular thyroid ultrasound (US) to screen for medullary thyroid cancer (MTC). We performed 20 calcium stimulation tests in adult patients. While there was a significant difference in basal and peak CT between our patients, healthy subjects and subjects with MTC, there was no difference with patients with C-cell hyperplasia.
CONCLUSIONS: This study underscores the common occurrence of hypercalcitoninemia in both paediatric and adult PHP/iPPSD patients, in particular with subtypes iPPSD2-iPPSD3. Furthermore, these patients show an hyperresponsiveness to calcium stimulation test falling between healthy subjects and patients with MTC. These findings contribute into the understanding of CT dynamics in the context of PHP/iPPSD.
METHODS: We retrospectively collected data from two cohorts from two European Endocrinology tertiary centers: the paediatric cohort comprised 88 children with available calcitonin (CT) measurements; the adult cohort included 43 individuals with simultaneous CT and PTH measurements.
RESULTS: In the paediatric cohort 65.9% had hypercalcitoninemia (median CT 15 ng/L); in the adult cohort 53.5% (mean CT 21.6 ng/L). There was no difference between CT in paediatric and adult population; we observed stable CT levels over a median follow-up of 134.5 months in adults. Notably, no correlations were detected between CT and PTH levels. Other etiologies of hypercalcitoninemia were excluded, adult patients underwent regular thyroid ultrasound (US) to screen for medullary thyroid cancer (MTC). We performed 20 calcium stimulation tests in adult patients. While there was a significant difference in basal and peak CT between our patients, healthy subjects and subjects with MTC, there was no difference with patients with C-cell hyperplasia.
CONCLUSIONS: This study underscores the common occurrence of hypercalcitoninemia in both paediatric and adult PHP/iPPSD patients, in particular with subtypes iPPSD2-iPPSD3. Furthermore, these patients show an hyperresponsiveness to calcium stimulation test falling between healthy subjects and patients with MTC. These findings contribute into the understanding of CT dynamics in the context of PHP/iPPSD.
摘要：
背景：假性甲状旁腺功能减退症（PHP）是指一组罕见的遗传性疾病，与对甲状旁腺激素（PTH）和其他激素的抵抗有关，现在称为灭活PTH/PTHrP障碍（iPPSD）。在小系列中很少报道高降钙素血症。我们的目的是研究PHP/iPPSD儿童和成人患者高降钙素血症的特征。
方法：我们回顾性地收集了来自两个欧洲内分泌学三级中心的两个队列的数据：儿科队列包括88名接受降钙素（CT）测量的儿童；成人队列包括43名同时接受CT和PTH测量的个体。
结果：在儿科队列中，65.9％患有高降钙素血症（中位CT15ng/L）；在成人队列中，53.5％（平均CT21.6ng/L）。儿童和成年人的CT之间没有差异；我们观察到成年人在134.5个月的中位随访中的CT水平稳定。值得注意的是,在CT和PTH水平之间没有检测到相关性.高降钙素血症的其他病因被排除，成人患者接受常规甲状腺超声(US)筛查甲状腺髓样癌(MTC).我们对成年患者进行了20次钙刺激试验。虽然我们的患者之间的基础和峰值CT有显著差异，健康受试者和MTC受试者，与C细胞增生患者无差异。
结论：这项研究强调了高降钙素血症在儿科和成人PHP/iPPSD患者中的常见发生率，特别是iPPSD2-iPPSD3亚型。此外，这些患者对钙刺激试验的高反应性属于健康受试者和MTC患者.这些发现有助于在PHP/iPPSD的背景下理解CT动力学。
方法：我们回顾性地收集了来自两个欧洲内分泌学三级中心的两个队列的数据：儿科队列包括88名接受降钙素（CT）测量的儿童；成人队列包括43名同时接受CT和PTH测量的个体。
结果：在儿科队列中，65.9％患有高降钙素血症（中位CT15ng/L）；在成人队列中，53.5％（平均CT21.6ng/L）。儿童和成年人的CT之间没有差异；我们观察到成年人在134.5个月的中位随访中的CT水平稳定。值得注意的是,在CT和PTH水平之间没有检测到相关性.高降钙素血症的其他病因被排除，成人患者接受常规甲状腺超声(US)筛查甲状腺髓样癌(MTC).我们对成年患者进行了20次钙刺激试验。虽然我们的患者之间的基础和峰值CT有显著差异，健康受试者和MTC受试者，与C细胞增生患者无差异。
结论：这项研究强调了高降钙素血症在儿科和成人PHP/iPPSD患者中的常见发生率，特别是iPPSD2-iPPSD3亚型。此外，这些患者对钙刺激试验的高反应性属于健康受试者和MTC患者.这些发现有助于在PHP/iPPSD的背景下理解CT动力学。
