MEN1 syndrome across four generations

#4178

Introduction: MEN1 should be suspected in patients with an endocrinopathy of two of the three typically affected organs, or with an endocrinopathy of one of these organs and a first-degree relative affected by MEN1 syndrome. Still, a delay in diagnosis occurs in most cases.

Aim(s): We describe our experience in managing a MEN 1 patient and his family members who constituted a large kindred. 10 patients with a clinical diagnosis of MEN1 from four generations were selected.

Materials and methods: The index case was diagnosed with pancreatic NET and nephrolithiasis (2007, 49 years old), primary hyperparathyroidism (2009), lipomastia and multiple subcutaneous lipomas. Two deceased obligate gene carriers are the father of the index case and his uncle. The father of the index case died at the age of 80, with a history of pituitary adenoma. The index-case son has primary hyperparathyroidism (2011, 30 years), thymic hyperplasia (2014), pancreatic NET (2018), adrenal (2013) and pituitary adenoma (2019) both non-functioning. The index-case daughter has hyperprolactinemia without evident pituitary adenoma (2002), primary hyperparathyroidism (2012, 35 years), and non-functioning adrenal adenoma (2017). Due to family history, further work-up revealed the MEN1 syndrome. The molecular diagnosis of the index case detected the presence of c1546del, exon 10 mutation.

Conference:

Presenting Author:

Authors: Ciobanu O, Martin S, Muha M, Fica S,

Keywords: MEN1 syndrome, large kindred, case series,