Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited endocrine tumor syndrome characterized by development of cancer in various endocrine organs, particularly in pituitary, parathyroid and pancreas. Moreover, in some cases, also non-endocrine tumors can be diagnosed, developing atypical phenotypes.
Case report: We report herein the clinical history of a patient affected by MEN-1 syndrome who developed atypical features for this disease. The patient clinical history started on August 2015 when he referred, at the age of 23 years, to the Emergency Department of our Hospital for the occurrence of progressive asthenia, weakness, tremor and syncope. The biochemical test documented hyper-calcemia and severe hypoglycemia. The patient was referred to our Neuroendocrine Tumor and Pituitary Unit and he was diagnosed with pancreatic insulinoma, hypercalcemic hyperparathyroidism and a prolactin secreting pituitary adenoma. The MEN-1 syndrome was suspected and genetic test for mutation of menin resulted positive for the pathogenic variant c1548dupG. On January 2016, patient was diagnosed with intratubular germ cell neoplasia, consisting of mature teratoma and yolk sac tumor and he underwent a right orchiectomy.
Conclusion: This is the first case report showing the clear association of MEN-1 syndrome with the yolk sac tumors and teratomas, as in our case, the c1548dupG represents a pathogenic variant rather than a SNP. This case suggests the opportunity of an accurate evaluation of testis particularly in young MEN-1 affected patient and that a prompt screening for neoplastic disease should involve all the endocrine glands.
18 - 21 May 2019
European Society of Endocrinology