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

• Patients with non-mosaic TS must be tested for cryptic Y chromosome material.
• Y chromosome material increases gonadoblastoma risk, so gonadectomy is recommended.
• Cardiac MRI is preferred to echocardiogram for detecting cardiac anomalies in TS.
• TS increases risk of cardiovascular anomalies and death, particularly in pregnancy.
• TS is a relative contraindication to reproduction; cardiac anomalies are absolute.

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.