AUTHOR=Bianco Bianca , Loureiro Flavia Altheman , Trevisan Camila Martins , Peluso Carla , Christofolini Denise Maria , Montagna Erik , Laganà Antonio Simone , Barbosa Caio Parente 

TITLE=Effects of FSHR and FSHB Variants on Hormonal Profile and Reproductive Outcomes of Infertile Women With Endometriosis

JOURNAL=Frontiers in Endocrinology

VOLUME=12

YEAR=2021

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2021.760616

DOI=10.3389/fendo.2021.760616

ISSN=1664-2392

ABSTRACT=<sec><title>Background</title><p>Single nucleotide variants (SNVs) <italic>FSHB</italic>:c.-211G&gt;T, <italic>FSHR</italic>:c.919G&gt;A, and <italic>FSHR</italic>:c.2039G&gt;A were reported to be associated with the variability in FSH and LH levels, and <italic>in vitro</italic> fertilization (IVF) outcomes. In this study, we aimed to evaluate the effects of <italic>FSHB</italic>:c.-211G&gt;T, <italic>FSHR</italic>:c.919G&gt;A, and <italic>FSHR:</italic>c.2039G&gt;A variants, alone and combined, on the hormonal profile and reproduction outcomes of women with endometriosis.</p></sec><sec><title>Methods</title><p>A cross-sectional study was performed comprising 213 infertile Brazilian women with endometriosis who underwent IVF treatment. Genotyping was performed using TaqMan real-time PCR. Variables were compared according to the genotypes of each variant and genetic models, and the combined effects of the SNVs were evaluated using the multifactorial dimensionality reduction method.</p></sec><sec><title>Results</title><p><italic>FSHB</italic>:c.-211G&gt;T affected LH levels in women with overall endometriosis and minimal/mild disease. <italic>FSHR</italic>:c.919G&gt;A affected FSH levels in women with overall endometriosis and the number of oocytes retrieved in those with moderate/severe endometriosis. Moreover, the <italic>FSHR</italic>:c.2039G&gt;A affected FSH levels in women with overall endometriosis, LH levels and total amount of rFSH in those with minimal/mild disease, and number of follicles and number of oocytes retrieved in those with moderate/severe endometriosis. No effect on hormone profile or reproductive outcomes was observed when the genotypes were combined.</p></sec><sec><title>Conclusions</title><p>Variants of the <italic>FSHB</italic> and <italic>FSHR</italic> genes separately interfered with the hormonal profiles and IVF outcomes of women with endometriosis.</p></sec>