ObjectiveTo summarize the clinical manifestations, pathogenesis, diagnosis and treatment of multiple endocrine neoplasia type 1 (MEN-1) so as to improve the understanding of MEN-1.MethodThe clinical data of 1 case of MEN-1 with new mutated gene in the Yantai Yuhuangding Hospital of Medical College of Qingdao University (our hospital) were analyzed retrospectively.ResultsThe patient was a 73-year-old woman, who was admitted to our hospital because of “abdominal pain, diarrhea” for 4 d. After discussion by a multidisciplinary team, MRI of pancreatic, adrenal and pituitary, and endoscopy examinations were performed to further identify the cause of diarrhea. Meanwhile, MEN-1 gene was detected in the peripheral blood of the patient and her relatives, and the result showed that the proband and his daughter had a cytosine deletion at c.1401 in exon 10 of MEN-1 gene, which resulted in frame shift mutation of p.e468r fs, it was confirmed as MEN-1. After 5 d of conservative treatment of the disease, the patient’s family requested discharge and the patient died half a month after discharge.ConclusionsMEN-1 is a rare autosomal dominant inheritable disease, with diverse clinical manifestations and easy misdiagnosis. Therefore, it is necessary to be alert to abnormal indicators in the glands associated with MEN-1, so as to achieve early diagnosis and treatment.
