Endocrine Abstracts

Introduction: MEN-1 is a rare autosomal dominant familial cancer syndrome characterized by involvement of parathyroid glands, enteropancreatic endocrine tissues and anterior pituitary gland. This disease is linked to germline mutations in the MEN1 gene (more than 460 described), whose identification allows the familial genetic counselling. Here we describe a novel germinal mutation in exon 10 of the MEN1 gene identified in an Italian family.

Case Report: A 61-yr-old woman presented with recurrent kidney stones (first manifestation at 25 years of age), osteoporosis, upper abdominal pain. She reported hysterectomy for uterus leyomiomas at 21 years of age, hyperprolactinemia since 30 years, surgical removal of multiple lipomas. Her sister had a diagnosis of prolactinoma at 20 years of age, primary hyperparathyroidism (PHPT), gastric tumor. She had a positive familial history for neoplastic diseases on both maternal (gastro-enteric tumors) and patern(pancreatic tumors and PHPT) sides of her pedigree.

Proband’s laboratory examinations showed high values of PRL, gastrin and PHPT (high calcium and PTH with low phosphate). Neck US showed a voluminous parathyroid enlargement. MRI with gadolinium disclosed a pituitary microadenoma.

The proband’s 40-yr-old son reported a history of recurrent kidney stones already treated by laser lithotripsy, sexual dysfunction, pseudo-gynecomastia, multiple lipomas. Laboratory data revealed severe hyperprolactinemia, hypogonadotropic hypogonadism, PHPT. The MRI showed a pituitary macroadenoma invading the right cavernous sinus. Neck US disclosed two enlarged parathyroid glands.

In all affected family members the genetic testing identified a novel MEN1 germline heterozygous deletion in exon 10, p.K564RfsX3(c.1691delA), resulting in a frameshift generating a premature termination codon consistent with a pathogenic effect.

Conclusion: We describe a new mutation of MEN1 gene with an apparent high degree of penetrance.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.