Turner syndrome: update on current therapies

Abstract

New treatments for girls and women with Turner syndrome (monosomy X) have dramatically improved their quality of life and health. Young girls are treated with growth hormone to enhance adult height, and with estrogen to induce and maintain feminization, and prevent osteoporosis. Vigilant screening for otitis, thyroid disease, hypertension, dyslipidemia and diabetes allows for early and effective medical treatment of these common problems. Comprehensive cardiovascular evaluation and regular monitoring of aortic diameter are essential to identify individuals at risk for dissection or rupture. Insights derived from the study of metabolic risk factors in women with Turner syndrome may illuminate gender differences in atherosclerotic heart disease.

Keywords::

• congenital heart disease
• estrogen
• genomic imprinting
• growth hormone
• hormone replacement therapy
• HRT
• osteoporosis
• premature ovarian failure
• short stature
• X chromosome