ECE2023 Poster Presentations Reproductive and Developmental Endocrinology (108 abstracts)
In Vitro Fertilization in Polycystic Ovary Syndrome: Treatment Individualization Based on Genetic Singularities
Ana Carreira 1 , Inês Vieira 1 , Sandra Reis 2 , Alexandra Carvalho 3 , Conceição Dias 3 , Silvana Fernandes 3 , Ana Ferreira 3 , Dírcea Rodrigues 1 , Ana Sousa 3 , João Ramalho-Santos 2 , Paulo Cortesão 3 , Teresa Almeida-Santos 3 , Ana Ramalhinho 4 , Mariana Moura-Ramos 3 , Miguel Melo 1 & Isabel Paiva 1
1Centro Hospitalar e Universitário de Coimbra, Endocrinology, Diabetes and Metabolism, Coimbra, Portugal; 2CNC-Center for Neuroscience and Cell Biology, Portugal; 3Centro Hospitalar e Universitário de Coimbra, Reproductive Medicine Unit, Gynecology, Obstetrics, Reproduction and Neonatology Department, Coimbra, Portugal; 4CICS-UBI-Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal
Introduction: Polycystic ovary syndrome (PCOS) is one of the most common causes of anovulatory infertility. Polymorphisms in genes related to follicular recruitment and development, such as the follicle-stimulating hormone receptor (FSHR) and the oestrogen receptor 1 (ESR1) genes, and their impact on biochemical phenotype and response to controlled ovarian stimulation in women with PCOS have been studied in different populations, with inconsistent results.
Aims: To evaluate the influence of FSHR rs6166, p.Asn680Ser (c.2039A>G) and of ESR1 rs2234693 (Pvull c.453-397 T×>×C) polymorphisms on biochemical phenotype and response to controlled ovarian stimulation in women with PCOS and infertility.
Materials and methods: Retrospective observational study of women with a diagnosis of PCOS (by Rotterdam criteria) and infertility, who underwent in vitro fertilization (IVF). A short GnRH antagonist protocol was used for controlled ovarian stimulation. Genotyping of the FSHR rs6166 and of the ESR1 rs2234693 polymorphisms was performed and hormone levels and IVF results were compared between different genotypes.
Results: 80 women with PCOS and infertility were evaluated, with median age of 33.1±3.6 years and mean body mass index of 26.8±5.4 kg/m2. The genotype distribution of FSHR rs6166 polymorphism was 32.5% AA, 48.8% AS and 18.8% SS, and of ESR1 rs2234693 polymorphism was 21.5% CC, 46.8% CT and 31.3% TT. Women with the SS variant of the FSHR rs6166 polymorphism had higher FSH levels on the third day of the menstrual cycle (9.6±9.8 vs 6.52±1.6 [AA] and 5.5±1.6 [AS] UI/ml, P=0.006), with no differences in other baseline hormonal parameters (LH, oestradiol, progesterone, testosterone and anti-mullerian hormone) or in antral follicle count between genotypes. Additionally, women with the SS variant of the FSHR polymorphism required higher cumulative doses of FSH for controlled ovarian stimulation (1860.5±627.8 vs 1498.1±359.3 [AA] and 1425.4±474.8 [SA] UI, P=0.046), but showed no difference in response (follicle count on the day of ovulation induction, number of oocytes and number of blastocysts obtained). Women with different ESR1 genotypes showed no differences on baseline hormonal parameters or response to controlled ovarian stimulation.
Conclusions: The SS variant of the FSHR rs6166 polymorphism was associated with higher baseline FSH levels and higher cumulative doses of FSH in controlled ovarian stimulation, which may suggest a lower sensitivity to FSH. Thus, controlled ovarian stimulation with higher doses of FSH may be more appropriate in women with this genotype. The ESR1 rs2234693 polymorphism was not associated with differences in biochemical phenotype or response to ovarian stimulation.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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