| Abstract [eng] |
Background: Turner syndrome is a genetic disorder caused by the complete or partial absence of one X chromosome in females. It is a relatively common syndrome, occurring in approximately 1 in 2,500 live female births. This genetic anomaly leads to a diverse range of medical and physiological difficulties, many of which are associated with endocrine and metabolic abnormalities. Aim: to conduct a literature review on Turner syndrome, focusing on its’ endocrine and metabolic manifestations. Methods: a literature review was conducted on the PubMed database using the keywords: “Turner syndrome”, “infertility”, “hormone replacement therapy”. Articles written in English and published in the last 5 years were selected for the analysis. Results: Turner syndrome often involves endocrine and metabolic disorders, including growth hormone deficiency, thyroid problems, insulin resistance, and lipid abnormalities. Moreover, women with Turner syndrome frequently have ovarian insufficiency which leads to infertility and a lack of secondary sexual characteristics at puberty. Treatment of Turner syndrome typically involves growth hormone to address short stature and sex hormone replacement therapy for gonadal dysfunction. Additionally, lifestyle modifications and careful monitoring help to reduce the risk of obesity and other related metabolic complications. Conclusions: individuals with Turner syndrome often suffer from numerous endocrine and metabolic conditions, leading to a higher mortality rate when compared to the general population. Detecting these health issues early and providing multidisciplinary care are vital not only for addressing medical concerns but also for enhancing patients’ overall well-being and life quality. |
