ESPE Abstracts

Turner syndrome is a condition in females missing a sex chromosome (45,X) or parts of the second sex chromosome. It is considered a rare condition and associated with a range of characteristics, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations of the heart, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes. Morbidity and mortality is clearly increased compared with the background population and the average age at diagnosis is quite delayed. During recent years it has become clear that a multidisciplinary approach to the patient with Turner syndrome is necessary. Hypergonadotropic hypogonadism is seen in most females with Turner syndrome, and puberty has to be induced in most cases. In addition to estrogen and progesterone deficiency, TS is also accompanied by low testosterone levels. According to TS guidelines, hormone replacement therapy (HRT) should be initiated in TS women with primary or secondary amenorrhea, preferably starting between 11 and 12 years of age, continuing until the normal age of natural menopause. HRT is necessary to induce puberty, to maintain secondary sex characteristics, and to facilitate uterine growth, appropriate peak bone mass, and possibly neurocognitive function, and it improves the metabolic profile via a positive influence on body composition. However, empiric data on the long-term effects of HRT in women with TS is limited, especially concerning the impact on endocrine conditions, cardiovascular diseases and mortality. Some have raised concerns that HRT in TS women may induce the development of deep venous thrombosis and pulmonary embolism. 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. Recent data from the Netherlands and Denmark show that a sizable proportion (13-15%) of females with TS do not receive proper HRT, despite guideline recommendations. New long term data on HRT underscores the importance of securing optimal treatment and reducing morbidity and perhaps mortality. Here, the optimal sex hormone replacement therapy will be discussed.