The patient with Turner syndrome: puberty and medical management concerns

Abstract

Turner syndrome (TS), which affects approximately 1 in 2,500 live-born females, is characterized by loss or structural anomalies of an X chromosome. Clinical features vary among patients; multiple organ systems can be affected. Endocrinologists are involved in the management of short stature, delayed puberty, and infertility. Endocrine therapies can include growth hormone, estrogen, and progestogen to promote linear growth and pubertal development. The duration of estrogen and progestogen treatment hormone treatment (HT) is generally more than 40 years. No one standard HT is suitable for all women, so general guidelines are provided to induce pubertal development. Additional considerations regarding HT choice include thrombotic risk and disorders associated with thrombophilia. Involvement of cardiologists is important because approximately 50% of patients with TS have congenital structural cardiac anomalies linked to an increased risk for aortic dissection and rupture. Oocyte donation offers the chance to carry a pregnancy, but accumulating information has highlighted the potential dangers associated with pregnancy. Advances in the care of infants, girls, and women with TS have been achieved; management involves coordinated care from a multidisciplinary team including endocrinologists, cardiologists, geneticists, otolaryngologists, behavioral health experts, nurse educators, and social workers.

Figure 1

MRI and MRA images of cardiac anomalies found in females with TS. A. Coarctation of the aorta; B. Dilation of the aorta; C. Bicuspid aortic valve; D. Elongation of the transverse aortic arch. [reproduced with permission from the Journal of Clinical Endocrinology & Metabolism from Freriks K, Timmermans J, Beerendonk CC, et al. Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome. J Clin Endocrinol Metab 2011;96:E1517–26.]