Antral follicle responsiveness to FSH, as far as measured by the FORT, is not influenced by the presence of SNPs of FSHR 307Ala and 680Ser.

Introduction Oocyte competence and quality depend on communication between the oocyte and the cumulus and theca cells. In the preantral phase, the members of the transforming growth factor β (TGF‐β) superfamily are responsible for this communication and play an important role in folliculogenesis. Members of the TGF‐β superfamily are related to endometriosis (overexpression in the ectopic endometrium); however, few studies have explored these proteins as influencing fertility in endometriosis. Considering endometriosis‐related infertility and to better understand the role of the TGF‐β superfamily members in the antral phase in women with endometriosis, this research investigated the gene expression of the genes for ligands AMH, BMP‐6, GDF‐9, INHA, INHBB, and TGFβ3; receptors AMHR2, BMPR2, and TGFβR3; and intracellular signalling: SMAD3 and SMAD4. Material and methods The gene expression of AMH, BMP‐6, GDF‐9, INHA, INHBB, TGFβ3, AMHR2, BMPR2, TGFβR3, SMAD3, and SMAD4 in cumulus cells was investigated through quantitative real‐time PCR in a case‐control study including infertile women with and without peritoneal endometriosis undergoing in vitro fertilization. Results Age and outcomes of assisted reproduction were similar between the groups (P > .05). However, women with endometriosis showed reduced expression of BMP‐6 and SMAD4 (P < .05) in cumulus cells compared with the control group, other genes did not present altered gene expression in women with endometriosis (P > .05). Conclusions The reduced expression of BMP‐6 and SMAD4 in women with peritoneal endometriosis compared with the control group indicates that granulosa (cumulus) cell function could be altered in these women.

Background/Aims: To evaluate serum prolactin and CA-125 levels as biomarkers for the diagnosis of peritoneal endometriosis. Methods: A prospective study was performed. Blood samples were drawn from a peripheral vein during the secretory phase of the menstrual cycle (day 19-21 prior to the surgery) to analyze through relative operating characteristic curve the serum prolactin and CA-125 levels for diagnosis of peritoneal endometriosis. The study wasperformed with 97 participants, 63 women with peritoneal endometriosis and 34 healthy women. Results: The sensitivity and specificity of peritoneal endometriosis diagnosis were equivalent for prolactin (21 and 99%) and for CA-125 (27 and 97%; p = 0.58). These two markers were used in a parallel test utilizing the usual cutoff (prolactin 20.0 ng/ml and CA-125 35 U/I). The sensitivity and specificity were 44 and 99%. However, by utilizing the best cutoff (prolactin 14.8 ng/ml and for CA-125 19.8 U/I), sensitivity, specificity and negative predictive value were 77, 88 and 97%, respectively. Conclusion: Serum CA-125 and prolactin levels assessed together, and considering the cutoff for CA-125 (19.9 U/I) and prolactin (14.8 ng/ml), allow the diagnosis of peritoneal endometriosis with acceptable sensitivity and specificity (77 and 88%) and a high negative predictive value (97%).

We demonstrate that an SNP in the AMH gene is associated with infertility in endometriosis, whereas several SNPs in the GDF-9 gene and the - 482A G SNP in the AMHR2 gene were found to be unrelated.

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Purpose To verify if polymorphisms of LH (Trp8Arg/Ile15Thr), LH receptor (insLQ), and FSH receptor (Asn680Ser) are associated with endometriosis and infertility. Methods This is a prospective case-control study. Sixtyseven patients with endometriosis and infertility (study group) and 65 healthy fertile patients (control group) were enrolled in the study between July 2010 and July 2013. All patients had their endometriosis diagnosis made or excluded by laparoscopic surgery; study group was submitted to the surgery for infertility investigation and control group for tubal ligation. Day-3 serum hormones were collected from all patients. Analysis of nucleotide mutations for LH polymorphisms (Trp8Arg and Ile15Thr), LHR polymorphism (insLQ), and FSHR polymorphism (Asn680Ser) were performed by PCR.Results Day-3 FSH, estradiol and LH serum levels were not different between the groups, while CA-125 was higher in patients with endometriosis and infertility. All polymorphisms studied were in Hardy-Weinberg equilibrium. The prevalence of insLQ was significantly higher in patients with endometriosis and infertility (P=0.005). Allele occurrence in control group was 0.10 versus 0.25 in infertile endometriosis group (P=0.001). There was no difference regarding Trp8Arg/Ile15Thr (P>0.05) and Asn680Ser (P>0.05) prevalence between groups. Conclusion This is the first time that prevalence of insLQ was shown to be higher in patients with endometriosis and infertility than in healthy fertile patients. There was no difference in LH and FSHR polymorphisms' prevalence between groups.

Objective: The study looked into the possible influence of GDF9 polymorphisms on ovarian response in women with a normal ovarian reserve undergoing controlled ovarian hyperstimulation for in vitro fertilization (IVF). Methods: This cross-sectional study included 67 women with normal ovarian reserve aged 30-39 years submitted to controlled ovarian hyperstimulation for IVF. We sequenced four polymorphisms in the GDF9 gene (C398G, C447T, G546A, and G646A) and analyzed their influence on follicular and oocyte outcomes. Results: The mutant allele C398G decreased the total number of follicles >17mm (6.49 vs. 4.33, p =0.001), total number of follicles (10.11 vs. 7.33, p =0.032), number of MII oocytes retrieved, and serum progesterone levels on trigger day. The C447T polymorphism was associated with a greater number of follicles between 12 and 14 mm on the day of r-hCG, while the G546A polymorphism was associated with lower serum progesterone levels on trigger day. Conclusions: GDF9 gene polymorphisms C398G and C447T adversely affected ovarian response in women undergoing controlled ovarian hyperstimulation. These findings show that in addition to playing a role in the early stages of folliculogenesis, GDF9 polymorphisms have an important impact on the final stage of oocyte development.

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