PDF(Pubmed)
Abstract：
Pseudohypoparathyroidism (PHP) is a rare genetic disease characterized by hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) in serum. Here, we report a case of a patient with pseudohypoparathyroidism type IB (PHPIB) and subclinical hypothyroidism, analyze the clinical and genetic data of his family members, review the relevant literature, and classify and discuss the pathogenesis and clinical characteristics of each subtype. Finally, we discuss the treatment approach to improve clinicians\' understanding of the disease.
摘要：
假性甲状旁腺功能减退症（PHP）是一种罕见的遗传性疾病，以低钙血症为特征，高磷酸盐血症,血清甲状旁腺激素(PTH)升高。这里,我们报告了一例具有IB型假性甲状旁腺功能减退症（PHPIB）和亚临床甲状腺功能减退症的患者，分析其家庭成员的临床和遗传数据，回顾相关文献，并分类讨论各亚型的发病机制和临床特点。最后,我们讨论了治疗方法，以提高临床医生对疾病的认识。
