A pedigree of multiple endocrine neoplasia type 1 with the proband initially presenting adrenal cortical carcinoma / 中华内分泌代谢杂志

ABSTRACT

[Summary]_ This is a pedigree of multiple endocrine neoplasia type 1(MEN1). The proband pursuit medical assistance because of hypertension and weakness. Adrenal cortical carcinoma with possible Cushing's syndrome was diagnosed after a series of tests. During this process, the proband was found to have hypercalcemia, and he was diagnosed as primary hyperparathyroidism. Adrenal carcinoma plus primary hyperparathyroidism suggested MEN1, which was confirmed by MEN1 gene 400_401insC mutation. Pedigree investigation found six additional patients, including one with high parathyroid hormone level and two without clinical evidence of any MEN1 diseases. The proband died of metastatic malignancy 7 months after diagnosis while the other 3 patients with clinically confirmed MEN1 tumor responded well to surgery, including one with adrenal cortical carcinoma.