X‐linked hypophosphatemia (XLH) is characterized by increased activity of circulating FGF23 resulting in renal phosphate wasting and abnormal bone mineralization. Hyperparathyroidism may develop in XLH patients; however, its prevalence, pathogenesis, and clinical presentation are not documented. This observational study (CNIL 171036 v 0) recruited XLH adult patients in a single tertiary referral center. Each patient was explored in standardized conditions and compared with two healthy volunteers, matched for sex, age, and 25‐OH vitamin D concentrations. The primary endpoint was the proportion of patients with hyperparathyroidism. The secondary endpoints were the factors influencing serum parathyroid hormone (PTH) concentrations and the prevalence of hypercalcemic hyperparathyroidism. Sixty‐eight patients (51 women, 17 men) were enrolled and matched with 136 healthy volunteers. Patients had higher PTH concentrations compared with healthy controls (53.5 ng/L, interquartile range [IQR] 36.7–72.7 versus 36.0 ng/L, IQR 27.7–44.0, p  < .0001). Hyperparathyroidism was observed in 17 patients of 68 (25%). In patients, a positive relationship between PTH and calcium concentrations and a negative relationship between PTH and phosphate concentrations were observed. Seven (10%) patients (3 premenopausal women, 1 postmenopausal woman, and 3 men) were diagnosed with hypercalcemic hyperparathyroidism. All underwent parathyroid surgery, with consecutive normalization of calcium and PTH concentrations. Hyperparathyroidism is a frequent complication in XLH adult patients. Disruption of the physiological regulation of PTH secretion contributes to parathyroid disease. Early‐onset hypercalcemic hyperparathyroidism can be effectively and safely cured by surgical resection. © 2020 American Society for Bone and Mineral Research.

中文翻译：

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X连锁性低磷血症患者的甲状旁腺功能亢进。

X连锁低磷血症（XLH）的特征在于循环FGF23的活性增加，导致肾脏磷酸盐消耗和异常的骨矿化。XLH患者可能会发生甲状旁腺功能亢进；但是，其发病率，发病机制和临床表现均未记录。这项观察性研究（CNIL 171036 v 0）在单个三级转诊中心招募了XLH成年患者。在标准化条件下对每位患者进行了研究，并与两名健康志愿者进行了比较，他们的性别，年龄和25-OH维生素D浓度相匹配。主要终点是甲状旁腺功能亢进症患者的比例。次要终点是影响血清甲状旁腺激素（PTH）浓度和高钙血症性甲状旁腺功能亢进症患病率的因素。68名患者（51名女性，招募了17名男性），并与136名健康志愿者配对。与健康对照组相比，患者的PTH浓度更高（53.5 ng / L，四分位间距[IQR] 36.7–72.7与36.0 ng / L，IQR 27.7–44.0，p  <.0001）。甲状旁腺功能亢进症有17例，占68例（25％）。在患者中，观察到PTH与钙浓度之间呈正相关，而PTH与磷酸盐浓度之间呈负相关。七名（10％）患者（3名绝经前女性，1名绝经后女性和3名男性）被诊断患有高钙血症性甲旁亢。所有患者均进行了甲状旁腺手术，并且钙和PTH浓度连续正常化。甲状旁腺功能亢进是XLH成年患者的常见并发症。PTH分泌的生理调节中断会导致甲状旁腺疾病。通过手术切除可以有效，安全地治愈早发性高钙血症性甲状旁腺功能亢进。©2020美国骨骼和矿物质研究学会。