ESPE Abstracts

Turner syndrome (TS) is associated with a wide range of clinical stigmata, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes, and neurocognitive deficits. Morbidity and mortality are clearly increased compared with the general population and the average age at diagnosis is quite delayed. During recent years it has become clear that a multidisciplinary approach is necessary toward the patient with TS. Several clinical advances have been implemented, and these are reviewed. Cases are presented and discussed in view of the recent new international clinical guidelines. Hypergonadotropic hypogonadism is seen in most females with Turner syndrome, and puberty must be induced in most cases. In addition to estrogen and progesterone deficiency, TS is also accompanied by low testosterone levels. However, empiric data on the long-term effects of hormone replacement therapy (HRT) in women with TS is limited, especially concerning the impact on endocrine conditions, cardiovascular diseases and mortality. The proper dose of HRT with female sex steroids has not been established, and, likewise, benefits and/or drawbacks from HRT have not been thoroughly evaluated. Likewise, no framework is in place for continuous follow-up during adult years in many countries. Multi-morbidity is often present in adult women, especially as females with TS age, perhaps pointing towards deficits in current practice. This can prove to be challenging and may point towards changes in current practice.