Carney Complex 1예

Abstract

Carney Complex is an autosomal dominant syndrome characterized by multiple neoplasias, including myxomas at various sites and endocrine tumors, spotty pigmentations and schwannomas. The criteria for diagnosis of the complex is the presence of two or more of the following conditions: 1) cardiac myxoma, 2) cutaneous myxoma, 3) mammary myxoma, 4) spotty mucocutaneous pigmentation, 5) primary pigmented nodular adrenal cortical disease (Cushing's syndrome), 6) testicular tumors (sexual precocity), 7) pituitary adenoma secreting growth hormone (acromegaly or gigantism). It is thought that the genetic defects which are responsible for Carney complex maps to the short arm of chromosome 2(2p16). There are about 200 patients with Carney complex reported in the world. We encounted a patient who had a cardiac myxoma with a family history of cardiac myxoma, acromegaly, lentigosis, testicular mass with calcification and left adrenal nodule. This patient met the criteria for the diagnosis of the complex. Therefore, we think this patient represents clinical presentation of the Carney complex and we report this case with reviews of the literatures. (J Korean Soc Endocrinol 12:633-641, 1997)