Association Between Follicle-Stimulating Hormone Receptor (FSHR) rs6166 and Estrogen Receptor 1 (ESR1) rs2234693 Polymorphisms and Polycystic Ovary Syndrome Risk, Phenotype, and Reproductive Outcomes in an Infertile Portuguese Population.

INTRODUCTION: Polycystic ovary syndrome (PCOS) is a common endocrine disorder often leading to anovulatory infertility. PCOS pathophysiology is still unclear and several potential genetic susceptibility factors have been proposed. The effect of polymorphisms in two genesrelated to follicular recruitment and development, the follicle-stimulating hormone receptor (FSHR) and the estrogen receptor 1 (ESR1), have been studied in different populations with contradictory results. AIMS: To evaluate the influence of FSHR rs6166 (c.2039A>G) and of ESR1 rs2234693 (Pvull c.453-397 T > C) polymorphisms on PCOS risk, phenotype, and response to controlled ovarian stimulation (COS). MATERIALS AND METHODS: Genotyping of the FSHR rs6166 and the ESR1 rs2234693 polymorphisms was performed in PCOS women and a control group undergoing in vitro fertilization (IVF). Demographic, clinical, and biochemical data, genotype frequency, and IVF outcomes were compared between groups. RESULTS: We evaluated 88 PCOS women and 80 controls. There was no significant difference in the genotype distribution of FSHR rs6166 polymorphism between PCOS women and controls (AA 31.8%/AS 48.9%/SS 19.3% in PCOS women vs AA 37.5%/AS 40.0%/SS 22.5% in controls; p = 0.522). The same was true for the ESR1 rs2234693 (CC 24.1%/CT 46.0%/TT 29.9% in PCOS women vs CC 18.8%/CT 48.8%/TT 32.5% in controls; p = 0.697). In PCOS women, we found higher follicle-stimulating hormone (FSH) levels on the third day of the menstrual cycle associated with the SS variant of the FSHR polymorphism (9.2 vs 6.2 ± 1.6 and 5.6 ± 1.6 mUI/mL; p = 0.011). We did not find other associations between the baseline hormonal parameters, antral follicle count, and response measures to COS with FSHR or ESR1 genotypes. We found, however, a need for higher cumulative doses of FSH for COS in patients with the SS variant of the FSHR rs6166 polymorphism (1860.5 ± 627.8 IU for SSvs 1498.1 ± 359.3 for AA and 1425.4 ± 474.8 for SA; p = 0.046 and p = 0.046). CONCLUSION: Our data suggest that in the population, FSHR rs6166and ESR1 rs2234693 polymorphisms do not influence the risk of developing PCOS nor do they influence the patient's phenotype and IVF success. However, the SS variant of the FSHR rs6166 polymorphism may be associated with FSH resistance requiring higher FSH doses for COS.

Antineoplastic Agents and (In)fertility: Informing Patients to Improve Decisions.

PURPOSE: Infertility is a potential adverse effect of cancer treatment, and future fertility is an important issue for cancer patients. In Portugal, the Centre for Fertility Preservation of CHUC, EPE, conducted a project to develop and disseminate oncofertility information resources. In this study, we report the results of the specific component of this program, which intended to produce information resources that promote patients' awareness of the subject and to support decisions concerning fertility preservation. METHODS: Guidance for writing health information for patients and criteria for developing decision aids were gathered. Information needs were assessed (literature review and locally applied questionnaire). Resources were pre-tested with a sample of patients and professionals. Their readability, presentation quality, and ability to support decisions were evaluated. RESULTS: General information handouts on infertility risk and decision aids about fertility preservation options were developed and positively evaluated. The resources are currently being distributed in collaboration with several national organizations. CONCLUSIONS: Through our multidisciplinary information program, reproductive-age cancer patients now have access to relevant information resources that will support timely, shared decision-making concerning fertility preservation.

Decision on Fertility Preservation in Cancer Patients: Development of Information Materials for Healthcare Professionals.

Infertility is a potential side effect of cancer chemotherapy. As the number of adolescent and young adult (AYA)-aged survivors increases, future fertility becomes an important issue. However, many patients are not adequately informed and oncologists point the lack of information as a barrier to discussion. Our aim was to produce information materials tailored to oncologists' needs to promote and support discussion on infertility risk and fertility preservation (FP) with AYA-aged patients. After literature review, information materials were successfully developed and are currently being distributed to healthcare professionals in Portugal, with the collaboration of several national organizations. These information materials will contribute to shared informed decisions regarding FP in AYA-aged patients.