남매에서 발생한 제2형 다발성 내분비선종

Abstract

Multiple endocrine neoplasia Types IIa, also known as Sipple's syndrome, is an inherited syndrome characterized by the presence of medullary carcinoma, pheochromocytoma and parathyroid hyperplasia. The early diagnosis of medullary thyroid carcinoma can be made by provocative agent, such as pentagastrin injection or calcium infusion, and measurement of serum concentration of calcitonin. Also, recent evidence indicating that the location of the MEN IIa gene is near the centromere an chromosome 10A suggests the possibility that a genetic diagnostic test may be possible in the near future. Recently we experienced two cases of MEN IIA in a 32-year-old female patient and her younger brother, a 29-year-old male patient. Both patients had been done bilateral adrenalectomy, followed by a total radial thyroidectomy and replaced with steroid, calcium, vitamin D and thyroid hormon. In the follow up study of patients, plasma and urinary catecholamines and serum calcitonin values have remained normal. In this brief paper, we present two cases of MEN Type IIa with some review of liferature.