Updated international guideline seeks to improve management of Turner syndrome

The complexity, rarity and lifelong conditions that can accompany Turner syndrome require a multidisciplinary approach to treatment and management, with special attention paid to cardiovascular risk in these patients, according to a new international guideline initiated by the European Society for Endocrinology and the Pediatric Endocrine Society.

The updated guideline, produced in collaboration with six other international societies, incorporates recent evidence-based advice for the diagnosis and treatment of patients with Turner syndrome, a genetic disorder that affects between 25 and 50 per 100,000 girls and women and involves multiple organs through all stages of life. The condition is associated with wide-ranging complications, according to researchers, including altered growth and delayed puberty, as well as CV health risks, infertility, and neurocognitive and social development deficits. The revised guideline addresses each of these issues.

“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,” Claus Gravholt, MD, PhD, professor in the department of clinical medicine at Aarhus University, Denmark, and chair of the guideline consensus working group, said in a press release.

The guideline highlights four main questions related to the efficacy and most optimal treatment for some of the most common conditions related to Turner syndrome: short stature, infertility, hypertension and hormone therapy. Questions explore the effect of growth-promoting treatment in Turner syndrome, the effects of blood pressure treatment on clinical outcomes, the probability of achieving a viable pregnancy after oocyte donation and estrogen replacement.

The authors make several recommendations for practice:

Growth hormone should be initiated early (age 4 to 6 years; preferably before age 12 to 13 years) when a child with Turner syndrome already has evidence of growth failure observed for 6 months in the absence of other treatable causes or the child is already short or has a strong likelihood of short stature.

Estrogen replacement should start from age 11 to 12 years, increasing to adult dosing over 2 to 3 years.

Women with Turner syndrome should be counseled that their probability to conceive spontaneously decreases rapidly with age, if present at all, and consideration should be given to offering fertility treatment at a young age. Oocyte donation should be considered after a thorough screening and appropriate counseling.

All women with Turner syndrome should be counseled on increased CV risk that accompanies pregnancy; preconception counseling should include alternative options, such as adoption or gestational carriers.

At diagnosis, any infant or child should undergo transthoracic echocardiography, even if the fetal echocardiogram or postnatal cardiac examination was normal. Women with aortic dilatation and/or bicuspid aortic valve should be counseled to seek prompt evaluation if they experience acute symptoms consistent with aortic dissection, including chest, neck, shoulder, back or flank discomfort.

Neuropsychology and allied behavioral health services should be integrated into the care for girls and women with Turner syndrome; girls should undergo annual development and behavioral screenings until adulthood with referrals as needed. Neuropsychological assessments should be conducted at key transitional stages during schooling, with academic and occupational adjustments made if needed to accommodate learning issues.

The new guideline was developed from the findings of more than 576 studies on Turner syndrome by the European Society for Endocrinology and Pediatric Endocrine Society, in collaboration with the Endocrine Society, the European Society for Pediatric Endocrinology, the 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 [Turner syndrome]; however, future well-designed and large studies are needed in order to keep establishing evidence-based recommendations.” Gravholt said in the release.

The updated guideline was published online in the European Journal of Endocrinology. – by Regina Schaffer

Disclosures: The authors report no relevant financial disclosures.