Background: Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant cancer predisposition syndrome which manifests a variety of endocrine and non-endocrine neoplasms and lesions. Because of its complexity in clinical manifestations, it is always difficult to set up the diagnosis in the early stage of the disease.
Aim: Using genetic diagnosis to identify and describe the process of the disease from the very beginning and followed the treatment result in 1 year.
Materials and methods: In this assay, a Chinese young man aged 31 with parathyroid hyperplasia, suspected gastrinoma and an enlarged pituitary with elevated level of prolactin (PRL) and growth hormone (GH) was admitted to our Department ward. We performed genetic analysis in his family and described a new nonsense mutation at codon 308 in exon 6 of the MEN1 gene, where a cytosine residue was exchanged for guanine residue (TCA > TGA), and a termination condon (S308X) occurred. During the 1 year follow up, typical manifestations emerged in this kindred and further confirmed the diagnosis of familial MEN 1.
Conclusions: We presented a case of MEN 1 from its early stage and followed the progression. Meanwhile, the mutation in this kindred has not been reported and our finding can contribute to better understanding about this disease.