假性甲状旁腺功能减退症是用于描述一组以甲状旁腺激素抵抗为特征的代谢紊乱的术语。假性甲状旁腺功能减退症患者有低钙血症,高磷酸盐血症,血清甲状旁腺激素升高.这种甲基化缺陷导致甲状旁腺激素和甲状旁腺激素相关肽受体的信号传导异常。我们介绍了一名40岁的非洲裔美国男性,他因低钙血症而被转诊到我们的内分泌诊所。在体检时,他的体重指数为34.3公斤/平方米,被发现有一张圆脸,头皮上还有几个皮下结节,手,和腿。实验室检查结果提示低钙血症,高磷酸盐血症,完整的甲状旁腺激素和促甲状腺激素(TSH)水平升高。他的手部X光片显示所有掌骨都是短指,软组织钙化.脑部CT提示皮质下区域有致密钙化,双侧基底神经节,双侧丘脑,双侧小脑和疣,头皮软组织钙化.欧洲假性甲状旁腺功能减退症网络建议的“甲状旁腺激素/甲状旁腺激素相关肽信号传导障碍”诊断方法被应用于患者,他被诊断患有甲状旁腺激素信号障碍。与老年假性甲状旁腺功能减退症分类和2018年假性甲状旁腺功能减退症国际共识声明报告相比,失活甲状旁腺激素/甲状旁腺激素相关肽信号传导障碍的聚类分类似乎更灵活,并且更易于使用。它还适应了与激素信号传导障碍相关的基因突变的未来纳入。采用失活甲状旁腺激素/甲状旁腺激素相关肽信号传导障碍分类仍然有限,需要进一步的更大的研究来比较这三种方法。
Pseudohypoparathyroidism is a terminology used to describe a group of metabolic disorders characterized by parathyroid hormone resistance. Patients with
pseudohypoparathyroidism have hypocalcemia, hyperphosphatemia, and elevated serum parathyroid hormone. This methylation defect leads to signaling abnormalities in the parathyroid hormone and parathyroid hormone-related peptide receptor. We present a 40-year-old African American male who was referred to our endocrinology clinic for hypocalcemia. On physical examination, his body mass index was 34.3 kg/m2 and he was found to have a round face, and several subcutaneous nodules on his scalp, hands, and legs. Laboratory findings revealed hypocalcemia, hyperphosphatemia, and elevated levels of intact parathyroid hormone and thyroid stimulating hormone (TSH). His hand X-ray showed brachydactyly of all metacarpal bones, and soft tissue calcifications. Brain CT indicated dense calcifications in the subcortical region, bilateral basal ganglia, bilateral thalami, bilateral cerebellum and vermis, and soft tissue calcifications in the scalp. The \"inactivating parathyroid hormone/parathyroid hormone-related peptide signaling disorder\" diagnostic approach suggested by the Euro
pseudohypoparathyroidism network was applied to the patient, who was diagnosed with parathyroid hormone signaling disorder. Compared to the old
pseudohypoparathyroidism classification and the 2018
Pseudohypoparathyroidism International Consensus Statement Report, the inactivating parathyroid hormone/parathyroid hormone-related peptide signaling disorder cluster classification appears to be more flexible, and easier to use. It also accommodates future inclusion of genetic mutations associated with hormonal signaling disorders. Adoption of the inactivating parathyroid hormone/parathyroid hormone-related peptide signaling disorder classification remains limited, and further larger studies are needed to compare the three approaches.