45,X TURNER SYNDROME WITH NORMAL OVARIAL FUNCTION AND MULTIPLE MALFORMATIONS OF THE AORTA

We present a case of a female patient with monosomy of X chromosome in peripheral lymphocytes and skin fibroblasts, normal ovarian function and associated multiple congenital abnormalities of the aorta: bicuspi d aortic valve, dilatation of the ascending aorta and multiple cystic structures of the aortic wail, complicated by endarteritis. We review the literature on fertile women with 45,X karyotype and the possible p athogenetic mechanisms of the aortic defects described as 'cystic medi al necrosis of the aorta'.