Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks

• Main Authors: Amanda Ackermann, Vaneeta Bamba
• Format: Article
• Language: English
• Published: Elsevier 2014-09-01
• Series: Journal of Clinical & Translational Endocrinology
• Subjects: Turner syndrome; Genetic testing; Gonadoblastoma; Cardiac MRI; Infertility; Aortic dissection
• Online Access: http://www.sciencedirect.com/science/article/pii/S2214623714000179

Patients with Turner syndrome (TS) require close medical follow-up and management for cardiac abnormalities, growth and reproductive issues. This review summarizes current controversies in this condition, including: 1) the optimal genetic testing for Turner syndrome patients, particularly with respect to identification of Y chromosome material that may increase the patient's risk of gonadoblastoma and dysgerminoma, 2) which patients should be referred for bilateral gonadectomy and the recommended timing of such referral, 3) options for assisted reproduction in these patients and associated risks, 4) the increased risk of mortality associated with pregnancy in this population, and 5) how best to assess and monitor cardiovascular risks.