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Advances in Endocrinology - Volume 2014 2014, Article ID 231089, 9 pages -

Review ArticleNational Institute of Child Health and Human Development, National Institutes of Health, CRC 1-3330, 10 Center Dr, NIH, Bethesda, MD 20892, USA

Received 8 May 2014; Accepted 9 September 2014; Published 16 November 2014

Academic Editor: Klaus Brusgaard

Copyright © 2014 Carolyn Bondy. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.

Autor: Carolyn Bondy



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