Hidden diagnosis of multiple endocrine neoplasia-1 unraveled during workup of virilization caused by adrenocortical carcinoma

Abstract

Multiple endocrine neoplasia-1 (MEN1) is an autosomal dominant syndrome with classic triad of parathyroid hyperplasia, pancreatic neuroendocrine tumors, and pituitary adenomas. Other recognized manifestations include carcinoid, cutaneous or adrenocortical tumors. It is commonly presented with clinical features related to parathyroid, pancreas or pituitary lesions. Here, we have presented a case that had virilization and biochemical Cushing's syndrome due to adrenocortical carcinoma as presenting feature of MEN1. Cushing's syndrome in MEN1 is an extremely rare and usually late manifestation and most cases are due to corticotropin-producing pituitary adenomas. Although Cushing's syndrome generally develops years after the more typical manifestations of MEN1 appear, it may be the primary manifestation of MEN1 syndrome particularly when related to adrenal adenoma or carcinoma.

Adrenocortical carcinoma in patients with MEN1: a kindred report and review of the literature

“…By a thorough literature review, we found additional 19 cases of ACC associated with MEN1 from nine reports (Supplementary Table 2) (1, 2, 3, 4, 5, 6, 7, 8, 9). None of the 19 cases were related.…”

“…Adrenal lesions occur in 20–55% of MEN1 cases and the majority is adrenocortical adenomas or hyperplasia. A small fraction of MEN1 patients developed adrenocortical carcinoma (ACC) (1, 2, 3, 4, 5, 6, 7, 8, 9). In fact, ACC in general is a rare malignancy with high mortality.…”

Phenotypes Associated With MEN1 Syndrome: A Focus on Genotype-Phenotype Correlations

“…Adrenocortical carcinoma can exhibit familial aggregation in MEN1 patients. In reviewing literature, we could document 22 cases of adrenocortical carcinoma associated with MEN1 (5,63,65,(97)(98)(99)(100)(101)(102)(103)(104)(105). The most peculiar and aggressive MEN1 phenotypes associated with adrenocortical carcinoma were recently described (104,105).…”

68Ga-DOTANOC PET/CT in Multiple Endocrine Neoplasia 1 With Associated Adrenocortical Carcinoma

“…The tumor cells also expressed immunoreactivity to cytokeratin and vimentin, and Ki67 index was approximately 2%. Multiple endocrine neoplasia 1 is an autosomal dominant endocrine syndrome with classic triad of parathyroid hyperplasia, pancreatic neuroendocrine tumors, and pituitary adenomas 1,2 . Adrenocortical carcinomas are rarely associated with MEN1 syndrome 3,4 .…”

“…Multiple endocrine neoplasia 1 is an autosomal dominant endocrine syndrome with classic triad of parathyroid hyperplasia, pancreatic neuroendocrine tumors, and pituitary adenomas. 1,2 Adrenocortical carcinomas are rarely associated with MEN1 syndrome. 3,4 In 60% to 85% of adults with adrenocortical carcinoma, patients present with a large mass or symptoms related to mass effect.…”