Hou Baojian, Tang Weili, Su Xin, Liu Wei
Department of Metabolism and Endocrinology, The Second Xiangya Hospital, Central South University, Changsha 410011; Department of Metabolism and Endocrinology, Zhongshan Hospital in Hubei Province, Wuhan 430033, China.
Department of Metabolism and Endocrinology, The Second Xiangya Hospital, Central South University, Changsha 410011; National Clinical Research Center for Metabolic Diseases, Changsha 410011, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2019 Sep 28;44(9):1083-1088. doi: 10.11817/j.issn.1672-7347.2019.190601.
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder. A 44-year-old man visited second Xiangya Hospital, Central South University due to hypoglycemia. He was eventually diagnosed as MEN1. A novel homozygous frameshift for c.640-643delCAGA (p.V215Mfs*13) of MEN1 gene was identified in the patient. After MDT (Multiple Disciplinary Team), open bilateral exploration with total parathyroidectomy and autotransplantation as well as partial pancreatectomy excision of all the macroscopic pancreatic tumors were performed at the same time. The patient recovered well. Individualized diagnosis and treatment are important for MEN1 patients.