IntroductionThe FMR1 gene plays an important role in brain development and in the regulation of ovarian function. The FMR1 gene contains CGG repeat variation and the expansion of the repeats is associated with various phenotypes e.g. fragile X syndrome, premature ovarian failure, etc. Repeats ranging < 55 CGG are considered normal, however recent studies suggest that high-normal (35–54 CGG) and low-normal (< 26 CGG) alleles may also have an impact on female reproductive function.Material and methodsWe have performed a case-control study to assess the impact of FMR1 gene CGG repeats on female infertility. The study comprised 161 women with primary and secondary idiopathic infertility and 12 females with diminished ovarian reserve. The control group consisted of 129 healthy women with children. The FMR1 gene trinucleotide CGG repeat variation was detected using a triplet repeat primed polymerase chain reaction with capillary electrophoresis.ResultsThe analysis of CGG repeats revealed that high-normal alleles are statistically significantly more common in the secondary infertility group than in controls (12% vs. 4.3%, p = 0.03, OR = 3.1, 95% CI: 1.1–8.3). The distribution of high-normal alleles and genotypes did not differ between patients with primary infertility and controls (p > 0.05). In addition, the analysis of low-normal allele and genotype frequencies did not present a difference between primary, secondary infertility and the control group (p > 0.05).ConclusionsIn our study, the FMR1 gene high-normal alleles were associated with secondary infertility. However, to address the controversies related to the role of FMR1 genes in the development of diminished ovarian reserve, further studies on the subject are required.

Background: Women with endometriosis experience painful symptoms and/or infertility, others have no symptoms at all. According to European Society of Human Reproduction and Embryology guidelines, surgery and assisted reproductive technologies (ART) are an appropriate treatment in cases of endometriosis-associated infertility. There are controversial data on the results of surgery and ART in patients with endometriosis.Methods: Retrospective analysis including 99 infertile patients aged between 25 and 48 years old. All of them had laparoscopic surgery as the primary option. 51 of them undergoing in vitro fertilization or intracytoplasmic sperm injection or frozen embryo transfer from 2003 through 2018 at SIA ‘Clinic EGV’.Results: The mean age of women was 34.2±4.5. In 56 (33.5%) cases was only surgery with 28 (50.9%) biochemical pregnancies and 26 (48.1%) live birth. In 111 (66.5%) cases there were surgery with ART with 48 (47.6%) biochemical pregnancies and 23 (22.7%) live birth. In 1 group patients mean age 30.7±4.6 and 2 group with mean age 35.1±4.2 (p=0.000). It was found that there is significant difference between endometriosis phenotype, infertility type, duration of infertility, repeated laparoscopic surgery, ART cycles, retrieved oocyte count and biochemical pregnancy rate.Conclusions: Patients with endometriosis related infertility should undergo surgical treatment as the primary option. Those patients who do not become pregnant after surgery must be treated with assisted reproductive technology. The optimal time to perform ART is first year after endometriosis surgery.