Endometriosis is a common gynecological condition affecting approximately 10% of women of reproductive age, characterized by the abnormal presence of endometrial-like tissue outside the uterus. Although endometriosis was first described over 300 years ago, its underlying mechanisms remain poorly understood, and accurate, prompt diagnosis continues to be challenging. Currently, there is a lack of effective, non-invasive diagnostic methods, and available treatments often come with significant side effects and high recurrence rates. This has spurred interest in investigating the role of pro- and anti-inflammatory molecules, particularly cytokines, in endometriosis, as these molecules play a key role in its progression by influencing cell growth and differentiation. Previous studies suggest that various cytokines could serve as potential biomarkers for diagnosing endometriosis, as they are detectable in both serum and peritoneal fluid. This review provides an overview of the expression, origin, function, and regulation of specific cytokines in endometriosis, along with a brief discussion on their potential clinical implications for diagnosis. Due to the complexity of endometriosis, a panel of multiple biomarkers may ultimately be necessary for accurate diagnosis. It is essential to consider factors such as patient selection, sample collection, and analytical variability when initiating or evaluating biomarker studies.
18 March 2025 in Journal of Assisted Reproduction and Genetics
Purpose To highlight the successful use of assisted reproductive technologies in achieving pregnancy and healthy childbirth in a woman with Swyer syndrome, a rare disorder of sex development characterized by gonadal dysgenesis, elevated gonadotropin levels, oestrogen insufficiency, tall stature, delayed puberty, and primary amenorrhoea. This case highlights the efficacy of reproductive treatments for individuals with nonfunctional gonads resulting from complete gonadal dysgenesis. Methods This report describes a woman diagnosed with Swyer syndrome at 18 years, presenting with primary amenorrhoea and delayed puberty. Following diagnosis, the patient underwent bilateral gonadectomy due to the increased risk of germ cell neoplasia and began hormone replacement therapy to address oestrogen insufficiency. At 31, the patient pursued fertility treatment, undergoing in vitro fertilisation (IVF) with donated oocytes. Results The IVF treatment using donor oocytes led to a successful pregnancy without complications. The pregnancy culminated in the delivery of a healthy baby via caesarean section, marking a successful outcome for a patient with Swyer syndrome. Conclusion Assisted reproductive technologies, particularly in vitro fertilisation (IVF) using oocyte donation, provide a feasible option for individuals diagnosed with Swyer syndrome to achieve parenthood. This case adds to the growing research on reproductive success in women with complete gonadal dysgenesis, emphasizing the potential for positive outcomes through specific reproductive approaches.