CASE STUDY: TURNER SYNDROME UNDERSTANDING TURNER SYNDROME: DIAGNOSIS, IMPLICATIONS, AND MANAGEMENT

This case study presents an 18-year-old woman with mosaic Turner syndrome, diagnosed in 2020, who presented with severe short stature and a desire for pregnancy. Complicated by premature ovarian failure and a history of inconsistent hormone replacement therapy, her fertility prospects are significantly impacted. Investigations revealed a severely diminished ovarian reserve, indicated by low Anti-Müllerian Hormone (AMH) and non-visualized ovaries on ultrasound. The case highlights the complexities of managing Turner syndrome, emphasizing the need for a multidisciplinary approach involving endocrinology, cardiology, and reproductive medicine. It underscores the importance of patient education, psychosocial support, and thorough discussion of fertility options, including oocyte donation, while carefully considering the increased risks associated with pregnancy in Turner syndrome. The study emphasizes the critical role of patient-centered care and effective communication in empowering individuals with Turner syndrome to make informed decisions regarding their health and fertility.