Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder caused by mutations in the MEN1 tumor suppressor gene and is characterized clinically by tumors in two or more endocrine glands, such as the pituitary gland, parathyroid glands or pancreatic islets. We describe an atypical presentation of familial hyperparathyroidism evoking the diagnosis of MEN1 in the first place.
Observations: We report a three-member family. First, a 31 year-old female presented a maxillary swelling. A pituitary incidentaloma was revealed by a CT scan. After biological investigations and imaging, a primary hyperparathyroidism due to a parathyroid adenoma and a macroprolactinoma were revealed. Second, her 43 year-old brother presented a history of recurrent bilateral nephrolithiasis as a complication of a primary hyperparathyroidism, having as well a multinodular goiter with hypothyroidism under hormone substitution. And finally, their 48-year-old sister had also a history of hypothyroidism and a total thyroidectomy was indicated for sonographically suspicious nodules for malignancy. Histopathological examination found adenomatous parathyroid glands with no evidence of thyroid cells and developing a hungry bone syndrome 7 days after surgery confirmed the diagnosis of asymptomatic primary hyperparathyroidism.
Conclusion: This family history illustrates the clinical polymorphism of possible MEN1 and the necessity of performing genetic and clinical screening especially to provide early treatment for hyperparathyroidism and to avoid its complications.
18 - 21 May 2019
European Society of Endocrinology