Arthur C Arcaz, Carlos Hernandez-Nieto, Joseph A Lee, Teresa A Cacchione, Tanmoy Mukherjee, Alan B Copperman
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引用次数: 0
Abstract
Context: Carriers of a CYP21A2 pathogenic variant exhibit distinct hormonal differences, yet their impact on assisted reproductive technology outcomes remains unknown.
Objective: To evaluate whether carriers of a CYP21A2 pathogenic variant exhibit differences in ovarian stimulation response and in vitro fertilization outcomes compared with non-carriers.
Design: A retrospective cohort study at a single private-academic center.
Subjects: A total of 1284 subjects undergoing 1556 in vitro fertilization cycles were ultimately included in the analysis, comprising of 244 carriers and 1040 non-carrier controls.
Main outcome measures: Live birth rates following frozen single euploid embryo transfer (SEET). Secondary outcomes included ovarian stimulation parameters, embryological development (fertilization and euploidy rates) and post-transfer outcomes (implantation, clinical pregnancy and pregnancy loss rates).
Results: Baseline characteristics and ovarian stimulation parameters were similar between pathogenic CYP21A2 variant carriers and non-carriers. No significant differences were observed in live birth (50.7% vs. 51.1%, p = 0.87), implantation (75.4% vs. 73.4%, p = 0.99), clinical pregnancy (63.3% vs. 62.7%, p = 0.73) rates between carriers and non-carriers, respectively. Although a univariate analysis of fertilization rates (81.7% vs. 83.3%, p = 0.008) showed a significance difference, this difference was not observed after adjusting for confounding variables in a multivariate analysis (adjusted odds ratio of 1.05, 95% CI 0.93-1.18).
Conclusion: Female patients who carry a pathogenic CYP21A2 variant achieve in vitro fertilization outcomes comparable to non-carriers. These findings support maintaining standard assisted reproductive treatment protocols for carriers and help provide personalized counseling for carriers identified through genetic screening.
期刊介绍：
The Journal of Clinical Endocrinology & Metabolism is the world"s leading peer-reviewed journal for endocrine clinical research and cutting edge clinical practice reviews. Each issue provides the latest in-depth coverage of new developments enhancing our understanding, diagnosis and treatment of endocrine and metabolic disorders. Regular features of special interest to endocrine consultants include clinical trials, clinical reviews, clinical practice guidelines, case seminars, and controversies in clinical endocrinology, as well as original reports of the most important advances in patient-oriented endocrine and metabolic research. According to the latest Thomson Reuters Journal Citation Report, JCE&M articles were cited 64,185 times in 2008.
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