Recent Developments in Diagnosis and Care for Girls in Turner Syndrome

摘要

The past decade produced important advances in molecular genetic techniques potentially supplanting the traditional cytogenetic diagnosis of Turner syndrome (TS). Rapidly evolving genomic technology is used to screen 1st trimester pregnancies for sex chromosomal anomalies including TS, and genomic approaches are suggested for the postnatal diagnosis of TS. Understanding the interpretation and limitations of new molecular tests is essential for clinicians to provide effective counseling to parents or patients impacted by these tests. Recent studies have advanced the concept that X chromosome genomic imprinting influences expression of the Turner phenotype and contributes to gender differences in brain size and coronary disease. Progress in cardiovascular MRI over the past decade has dramatically changed our view of the scope and criticality of congenital heart disease in TS. Cardiac MRI is far more effective than transthoracic echocardiography in detecting aortic valve abnormalities, descending aortic aneurysm, and partial anomalous pulmonary venous return; recent technical advances allow adequate imaging in girls as young as seven without breath holding or sedation. Finally, important developments in the area of gynecological management of girls and young women with TS are reviewed, including prognostic factors that predict spontaneous puberty and potential fertility and recent practice guidelines aimed at reducing cardiovascular risk for oocyte donation pregnancies in TS.