Complex endocrinopathies in MEN-1: diagnostic dilemmas in endocrine oncology

Abstract

Endocrine oncology is a complex area that must determine the site of a neoplastic process and the hormonal dysregulation that ensues. Patients with endocrine tumors often have delayed diagnosis because of the nonspecific and often subtle signs and symptoms. In patients with multiple endocrine neoplasia syndromes, diagnosis and clinicopathologic correlations can be even more challenging. We report a patient with multiple endocrine neoplasia type 1 (MEN-1) and a highly complex clinical story associated with multiple atypical lesions including two pituitary adenomas, a gonadotroph macroadenoma and a corticotroph microadenoma with Crooke's hyaline change and ectopic production of corticotropin-releasing hormone (CRH) from a thymic endocrine carcinoma. These lesions resulted in a highly complex clinical story, difficult diagnoses and questions about management. This case illustrates a number of clinically relevant challenges, including the diagnosis of pituitary adenomas in MEN-1, the difficulty in diagnosing Cushing's disease, and the large differential of pituitary pathologies in this disorder, double pituitary adenomas and other decoy lesions in Cushing's disease, the pathophysiology of Crooke's hyaline change in the pituitary, and the various causes of Cushing's syndrome associated with MEN-1.