Ectopic Parathyroid Adenoma in the Framework of an MEN1

Abstract

Multiple endocrine neoplasia type 1 (MEN1 or Wermer syndrome) is a rare hereditary disease, and especially its association with ectopic parathyroid adenomas is even more. Defined As a tumor developing in at least two endocrine glands including the anterior pituitary gland, the parathyroid glands and the duodeno-pancreatic endocrine tissue. This autosomal dominant hereditary pathology is caused by the mutation of the NEM1 gene encoding the tumor suppressor menin and located on chromosome 11q13. There is, however, sporadic cases account for 8 to 14%. Primary hyperparathyroidism is a frequent pathology secondary to autonomous overproduction of PTH (parathyroid hormone); it is mostly due to parathyroid adenomas (solitary or multiple). Diagnosis is purely biochemical. Cervical ultrasound and MIBI parathyroid scintigraphy is most often performed in the first line with good diagnostic performance, surgery is the only curative treatment for primary hyperparathyroidism, the reason why a preoperative localization and at best per-operative detection in the case of an ectopic adenoma to ensure proper resection and avoid subsequent recurrences.