Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type1(MEN1) is a rare autosomal dominant disorder without a good genotype–phenotype correlation, defined as a tumor developing in at least two endocrine glands including the anterior pituitary gland, the parathyroid glands and the duodenopancreatic endocrine tissue. We present a case report of three patients with a strong suspicion of MEN1.

Cases reports: A 39-year-old with a pituitary surgery history presents a recurrent macroadenoma, experiencing tumoral symptoms, thyrotrope, and gonadotrope deficiencies, along with kidney issues. Clinical signs include acromegalic features, galactorrhea, nevus-like skin lesions, and grade 1 obesity. Hyperprolactinemia, elevated IGF1, and multiple pituitary deficiencies are identified. Surgery reveals a parathyroid adenoma, dystrophic pancreatic parenchyma, and a grade 2 pancreatic neuroendocrine tumor. A27-year-old urgently admitted for renal failure and anemia is diagnosed with hypercalcemia. The patient reports asthenia, diffuse pain, and a tumoral syndrome featuring headaches, decreased visual acuity, and more. Clinical findings include bone pain, hyperpigmented patches, and subcutaneous nodules. Hypophysogram shows corticotrope, gonadotrope, and thyrotrope deficiency. Cervical ultrasound reveals a right lower parathyroid nodule. Resonance imaging reveals a 6 mm microadenoma. The patient undergoes hemodialysis, transfusions, and surgery for parathyroid adenoma. A61-year-old undergoes surgery for a pituitary macroadenoma causing tumoral symptoms, with corticotrope, gonadotrope, and thyrotrope deficiencies. The histological study confirms a non-secreting pituitary adenoma. Screening reveals primary hyperparathyroidism. Scintigraphy indicates a parathyroid origin for a tissue nodule. The patient receives medical treatment for hypercalcemia and undergoes parathyroidectomy, confirming diffuse parathyroid hyperplasia. In all three cases, MEN1was suspected, unfortunately, genetic testing was not available.

Discussion: The prevalence ofMEN1 in the general population is estimated to range from 1/20,000 to 1/40,000. Mutations inthe MEN1 gene are identified as responsible for the development of this syndrome. At the time of diagnosis, the initial endocrine lesion is solitary in 75% of cases, with each of the primary parathyroid, pituitary, and pancreatic lesions potentially being inaugural. However, parathyroid involvement remains the predominant initial manifestation in the majority of patients, followed by pancreatic neuroendocrine tumors and pituitary adenomas The most common type of pituitary adenoma in MEN1is a prolactinoma, whereas non-functioning adenomas are rare. MEN1 should be considered when various conditions, particularly pituitary, parathyroid, and duodenopancreaticendocrine tissue involvement, are observed in an individual or family. Patients withMEN1 face a reduced life expectancy, with a mortality rate of 50% before the age of50. The prognosis for these patients could be enhanced through presymptomatic detection and specific tumor treatment.