Pseudohypoparathyroidism Type IB with Subclinical Hypothyroidism: a Pedigree Investigation and Literature Review

Jie Liu, Lijuan Lu, Yu Wei, Yu Li, Qiong Wang, Lei Yu, Langen Zhuang, Guoxi Jin, Xiaoyan Pei Department of Endocrinology, the First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui Province, People’s Republic of ChinaCorrespondence: Guoxi Jin; Xiaoyan Pei, Department of Endocrinology, the First Affiliated Hospital of Bengbu Medical University, No. 287 Changhuai Road, Bengbu, Anhui Province, 233000, People’s Republic of China, Email jyzjyz1999@163.com; 245899985@qq.comAbstract: 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.Keywords: hypocalcemia, parathyroid hormone resistance, GNAS, STX16, molecular genetic mechanism