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.
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| http://dx.doi.org/10.11817/j.issn.1672-7347.2019.190601 | DOI Listing |
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