Introduction: MEN1 is a rare autosomal dominant syndrome typically characterized by neoplastic lesions of parathyroid glands, anterior pituitary gland and endocrine pancreas. Several other tumours are associated with this syndrome, including adrenal lesions, but their prevalence and clinical characteristics (endocrine secretion and aggressiveness) are largely unknown.
Objective: To determine the prevalence, clinical characteristics and the possible genotype/phenotype association of adrenal lesions in MEN1 patients, as well as their global impact on patients outcome.
Material and methods: We retrospectively studied 16 patients belonging to six families of individuals with MEN1. Adrenal involvement was evaluated clinically, biochemically and imagiologically based on clinical records.
Results: Adrenal lesions were identified in 9 of 16 (56.3%) patients. This group comprises seven women and two men with a mean age of 55.6 years. The mean age at diagnosis of MEN1 was 46.3 years (1868) and adrenal involvement was detected between 0 and 16 years after the syndrome was diagnosed. Among the 16 patients evaluated, a total of nine adrenal nodules were founded, with a median of two nodules per patient. Only three patients had unilateral involvement. The mean adrenal lesion diameter at diagnosis was 17.5 mm (630 mm). Hormonal hypersecretion autonomous cortisol secretion was founded in one patient. None of the patients was submitted to adrenalectomy. Adrenal lesions were evenly distributed between the different germline mutations.
Conclusion: Adrenal tumours are a common feature of MEN1 that can affect more than half of the patients. Most of the tumours are bilateral non-functional lesions, but hormonal secretion may occur and should be promptly identified in order to reduce the morbidity/mortality of the syndrome. Adrenal evaluation should be considered in patients with MEN1.
20 - 23 May 2017
European Society of Endocrinology