14.07.2017

A comprehensive, international guideline that incorporates the most up-to-date knowledge on diagnosis, treatment and patient impact of Turner syndrome (TS) has been published in the European Journal of Endocrinology.

Claus Gravholt. Foto: Arkivfoto AU 

The guideline project was initiated by the European Society for Endocrinology (ESE) and the Pediatric Endocrine Society (PES), in collaboration with six other learned societies, to incorporate the latest evidence-based advice for diagnosis and treatment of girls and women with TS.

TS is a rare genetic disorder that affects only girls and occurs when all or part of one X chromosome is missing, affecting approximately 1/3000 female births. TS has many negative implications for patients at different stages of their life – it alters growth during childhood and teenage years, delays puberty, and adversely affects cardiovascular health and fertility in adulthood. TS is also associated with neurocognitive issues, which can result in patients having difficulties in everyday tasks such as navigating through a city, or experiencing social development issues, including impaired empathy.

If not diagnosed and treated appropriately, TS can be associated with higher mortality rates and preventable complications. Although previous guidelines have highlighted the importance of a multidisciplinary approach to manage TS patients, there have been many recent advances since their publication. The revised guideline addresses all health issues related to the condition, including psychological and social implications, providing clinicians with recommendations on how to treat patients at all stages – from foetal life into old age. Using evidence-based advice the updated guidance includes improved recommendations on optimal growth-promoting therapy, dealing with cardiovascular problems and tackling infertility in TS patients.

 “In particular, the new cardiovascular-related advice should lead to lower morbidity and mortality, while the recommendations on pregnancy should lead to improved quality of life.” says Professor Claus Gravholt, Chair of the guideline consensus working group.

The new guidelines were developed from the findings of over 576 TS studies by ESE and PES, in collaboration with the Endocrine Society, the European Society for Pediatric Endocrinology, European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology, and the European Society of Cardiology.

“We envision that these guidelines will be widely adopted around the world by the professional communities and become the framework to treat TS, however, more future well-designed and large studies are needed in order to keep establishing evidence-based recommendations.” states Professor Gravholt.

The full guideline can be downloaded free from the European Journal of Endocrinology, the official journal of the European Society of Endocrinology.

Notes for Editors

For further information about the study please contact:

Professor Claus Højbjerg Gravholt

Dept. of Endocrinology and Dept. of Molecular Medicine

Aarhus University Hospital, Nørrebrogade 44, 8000 Aarhus C, DK

Email: ch.gravholt@dadlnet.dk 

Phone: +45 784 62004 / Mobile: +45 234 78864

The “Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome. Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting” will be published on Friday 14 July 2017 and available to download for free at http://dx.doi.org/10.1530/EJE-17-0430.

For other press enquiries please contact the European Society of Endocrinology press office:

European Journal of Endocrinology (EJE) is the official clinical journal of the European Society of Endocrinology, publishing high-quality original research and review articles on all aspects of clinical and translational endocrinology from around the globe.  European Journal of Endocrinology is published by Bioscientifica.

At the European Society of Endocrinology (ESE), we are working together to develop and share the best knowledge in endocrine science and medicine. ESE represents a community of over 20,000 European endocrinologists, enabling us to inform policy makers on health decisions at the highest level through engagement in advocacy efforts across Europe. It is by uniting and representing every part of the endocrine community that we are placed in the best possible position to improve life for the patient.