Collaborative multi-society guidelines for Turner syndrome released

By Eleanor McDermid
Eur J Endocrinol 2017; Advance online publication
28 July 2017

medwireNews: Updated guidelines for the management of patients with Turner syndrome (TS) have been published, marking the first multi-society recommendations for the condition.

The guidelines were developed through meetings initiated by the European Society of Endocrinology and by the Pediatric Endocrine Society in the USA, followed by a consensus meeting, with contributions from other endocrine societies and from societies covering reproductive and cardiovascular health.

The latest guidelines are published in the European Journal of Endocrinology, along with a commentary from two of the authors – Claus Gravholt (Aarhus University Hospital, Denmark) and Philippe Backeljauw (University of Cincinnati College of Medicine, Ohio, USA).

Unlike the preceding guidelines – the most recent having been published in 2007 – the new ones provide graded recommendations. Since the previous guidelines, the evidence base has in fact expanded sufficiently that the guideline authors attempted to rate four areas relating directly to therapy according to the GRADE criteria. These addressed:

  • the effect of growth-promoting treatment in TS;
  • the likelihood of achieving viable pregnancy after oocyte donation;
  • the effect of blood pressure treatment on clinical outcomes, and;
  • optimal oestrogen replacement.

For the first two issues, the team found sufficient evidence to make GRADE evaluations “with reasonable certainty”. For growth, recommendations include the age and indications for initiating treatment and the dose of growth hormone to use. For fertility, which the authors note is the most important life-quality issue for many adults with TS, recommendations include early counselling and, where appropriate, treatment, with management by a multidisciplinary team including a cardiologist with experience in TS.

However, the guideline authors found insufficient evidence to satisfactorily address the issue of optimal oestrogen replacement and “almost no research” addressing the treatment of hypertension, despite this being a common and early occurring problem in TS.

And they stress that most aspects of managing TS did not have a firm evidence base and “consequently, most of the recommendations that we present are still only based on expert opinion”. They say that large, collaborative research studies will be needed to further strengthen the evidence base for the management of TS patients.

In addition to the GRADE-rated areas, the recommendations cover diagnosis and genetics; induction of puberty (noting the recommended age is now 11–12 years); cardiovascular health issues, “based on a wealth of new data coming from several centers around the world”; transition from paediatric to adult care; monitoring for comorbidities at diagnosis and throughout life; and neurocognitive and behavioural issues.

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