Evaluating the association between clinical spectrum and follicule stimulating hormone receptor (FSHR) genotypes in mullerian agenesis cases

Background: Due to their genital system anatomy, patients with Mullerian Agenesis face with considerable reproductive problems. Most of these patients have at least one ovary that enable ovulation induction, oocyte collection and transfer of the embrio to a gestational surrogate. More data are still needed on assisted reproduction techniques, ovulation induction and ovarian reserves which guide these patients to bear child having their genetic traits via surrogation or uterin transplantation. In this study, we aim to determine the association between FSHR genotypes and ovarian reserve in patients with Mullerian Agenesis. Material and Methods: Our study was designed with patients who admitted to Akdeniz University Hospital between 2009 and 2011. All patients have been informed about the details of the study and have signed the consent forms. Institutional Ethical Approval was obtained for the study. Patients at 23-39 years of age with the history of spontaneous conception were included as the control group. Case group constituted of 15-39 year-old patients with Mullerian agenesis who has been diagnosed either in our hospital or in another facility. Genomic DNA of patients was extracted from peripheral blood via non-enzymatic method to identify p.Ala307Thr and p.Ser680Asn genotype statuses. PCR reactions have been set up in Bio-Rad (MyCycler) and PCR System 9700 (Gene AmpR) PCR devices. Denaturated PCR products were loaded into ABI 3130 sequence analyzer and analyzed via ABI Sequence Analysis v3.1 software. Data were analyzed using SPSS version 20.0 (SPSS, Inc., Chicago, USA). Descriptive statistics such as frequency distribution, mean and standart deviation were used to define samples. Kruskal-Wallis analysis were used to compare ages between genotypes and groups for p.Ala307 and p.Ser680 changes. 95% confidence interval (or α=0.05) were used to determine differences. Results: Case and control groups were compared in terms of molecular genetic analyses and age group. Mean ages of case and control groups were 25,6+5,9 and 29+4,8, respectively. No statistically significant difference for mean ages was found between two groups (p=0,000). No statistical difference was found between case and control groups for distributions of p.Ala307Thr wild type, A/T heterozygote and T/T homozygote genotypes (p=0,470). Comparision of p.Ser680Asn polymorphism genotypes revealed statistically significant difference between groups (p=0,042). However, this difference was attributed to preponderance of polymorphisms in control group. Conclusion: Although the conclusion was made that ovarian reserves of Mullerian Agenesis cases were normal, more studies that focused ovarian reserves of those cases are still needed. We concluded that identifying FSHR genotypes in Mullerian agenesis cases couldn't give reliable information regarding ovarian reserves of these patients and alternative methods are required to assess these patients' ovarian reserves Key words: Mullerian Agenesis, FSHR Genotypes, Ovarian Reserve