New AAP-endorsed clinical practice guidelines for the care of patients with Turner syndrome (TS) are based on the findings of more than 576 studies and include updated recommendations for cardiovascular treatment.
The guidance reflects input from a variety of international societies and incorporates developments over the last decade.
The genetic condition, which affects about 25-50 of every 100,000 females, requires multidisciplinary care because the disease can involve multiple organs throughout life. TS alters growth during childhood and teen years, delays puberty and adversely affects cardiovascular health and fertility.
“If not diagnosed and treated appropriately, TS can be associated with higher mortality rates and preventable complications,” according to a news release from the European Society of Endocrinology, which initiated the project with the Pediatric Endocrine Society in collaboration with six other societies.
The document,Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting, is available at http://www.eje-online.org/content/177/3/G1.full and addresses the following:
- diagnosis and genetics;
- growth, puberty, fertility and pregnancy;
- neuropsychological care;
- cardiovascular health concerns and other comorbidities; and
- transition from pediatric to adult care.
"These updated guidelines … provide an extensive literature review and practical help for the clinician,” said Karen O. Klein, M.D., a pediatric endocrinologist at Rady Children’s Hospital – San Diego who helped author the guidelines.
The authors also call for large collaborative research efforts in a variety of areas to inform future treatment of this genetic condition.
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