Turner syndrome (TS) affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating a multidisciplinary approach to care. Numerous important advances have been noted during recent years. These advances cover all specialty fields involved in the care of girls and women with TS. This new international guideline is based on an international effort with emphasis on 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. Here, I will present the most important new advances in the care of Turner syndrome. Treatment with growth hormone (GH) during childhood and adolescence allows a considerable gain in adult height. SHOX deficiency explains some of the phenotypic characteristics in TS, principally short stature. Puberty has to be induced in most cases, and female sex hormone replacement therapy should continue during adult years.
The proper dose of hormone replacement therapy (HRT) with female sex steroids has not been established, and, likewise, benefits and/or drawbacks from HRT have not been thoroughly evaluated. In most countries it seems that the transition period from paediatric to adult care is especially vulnerable and the proper framework for transition has not been established. Likewise, no framework is in place for continuous follow-up during adult years in many countries.
During the transition period many young females opt out of longitudinal follow-up, probably because they feel well and cannot clearly see the need for continued medical surveillance, which has to be thoroughly and well explained to patients. However, osteoporosis, diabetes, both type 1 and 2, hypothyroidism, obesity and a host of other endocrinological diseases and conditions are seen more frequently in Turner syndrome in the long term. Prevention, intervention and proper treatment is only just being recognized. Hypertension is frequent and can be a forerunner of cardiovascular disease.
Morbidity and mortality is quite elevated and many conditions need to be vigorously and routinely checked for and diagnosed as early as possible in order to prevent long-term health consequences. Congenital and acquired heart related morbidity remain the leading cause of death in TS and much of this morbidity can be prevented.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology