Department of Clinical Biochemistry, Aalborg University Hospital , Aalborg, Denmark.
Department of Clinical Medicine, Aalborg University , Aalborg, Denmark.
J Pediatr Endocrinol Metab. 2022 Feb 4;35(5):691-694. doi: 10.1515/jpem-2021-0752. Print 2022 May 25.
Hypoparathyroidism is a rare disorder which is predominantly of idiopathic or genetic origin in children. The diagnosis is made from the biochemical measurement of parathyroid hormone (PTH), and the key findings include a low PTH in combination with hypocalcemia and hyperphosphatemia. However, the level of PTH encountered in patients with hypoparathyroidism may be dependent on the underlying genetic cause of the disorder as well as the biochemical assay used for assessment of PTH.
A three-year-old child with asymptomatic primary hypoparathyroidism was identified with a homozygous missense variant of . A sudden unexpected high PTH result after a shift from 2nd to 3rd generation PTH assay in the routine laboratory provided a clue on the underlying genetic etiology.
Pathogenic variants of as a cause of hypoparathyroidism are rarely described. In this case, the child was asymptomatic, and discordant PTH results were seen with different assays.
甲状旁腺功能减退症是一种罕见的疾病，主要为特发性或遗传性儿童疾病。甲状旁腺激素（PTH）的生化测量可用于诊断，其关键发现包括低 PTH 与低钙血症和高磷血症相结合。然而，甲状旁腺功能减退症患者的 PTH 水平可能取决于疾病的潜在遗传原因以及用于评估 PTH 的生化检测方法。
一名三岁儿童被诊断为无症状原发性甲状旁腺功能减退症，其存在. 的纯合错义变异。在常规实验室中从第二代 PTH 检测转换为第三代 PTH 检测后，出现了一个意外的高 PTH 结果，这为潜在的遗传病因提供了线索。
作为甲状旁腺功能减退症病因的. 致病变体很少被描述。在这种情况下，儿童无症状，不同检测方法的 PTH 结果不一致。
