The relationship between premature ovarian insufficiency (FXPOI) and premutation in the FMR1 gene is well established. In recent years, though, a potential relationship between the latter and a low ovarian reserve has been suggested. To explore it, we conducted a retrospective study in an IVF program at a university tertiary referral center in Barcelona (Spain). Data were obtained retrospectively from a total of 385 women referred for FMR1 gene testing at our institution from January 2018 to December 2021. We compared the prevalence of FMR1 gene premutation between 93 of them, younger than 35 years, with a diminished ovarian reserve (DOR), characterized by levels of anti-Mullerian hormone < 1.1 ng/mL and antral follicle count < 5; and 132 egg donors screened by protocol that served as the controls. We found a higher prevalence of FMR1 premutation in the DOR group (seven patients (7.69%)) than in the control group (one patient (1.32%)), Fisher-exact test p-value = 0.012). We concluded that compared with the general population represented by young egg donors, the prevalence of FMR1 gene premutation is higher in young patients with a diminished ovarian reserve. Although these findings warrant further prospective validation in a larger cohort of patients within DOR, they suggest that, in clinical practice, FMR1 premutation should be determined in infertile young patients with DOR in order to give them adequate genetic counselling.

Endometriosis affects about 10% of reproductive-aged women, characterized by endometrial-like tissue outside the uterus, leading to chronic inflammation. The exact cause remains unknown, though genetic and epigenetic factors are increasingly recognized alongside traditional theories. The disease manifests in forms such as endometriomas, whether superficial or peritoneal, and deep infiltrating lesions, often causing chronic pain and infertility. Infertility affects nearly 50% of patients, requiring expensive treatments like in vitro fertilization. Oxidative stress plays a key role in endometriosis, with sirtuins, especially SIRT3, emerging as important regulators. SIRT3, located in mitochondria, helps manage oxidative stress and redox balance. Despite extensive research, no diagnostic biomarkers exist. This longitudinal study compares oxidative stress markers and SIRT3 levels in patients with different endometriosis types. While classic oxidative stress markers showed no significant differences, higher SIRT3 levels were observed in peripheral blood mononuclear cells of patients with deep endometriosis. Additionally, patients with prior surgeries had elevated SIRT3 levels, indicating a possible link between disease severity and SIRT3 expression. The findings suggest SIRT3 as a potential therapeutic target in endometriosis management.

Numerous studies have compared ovarian tissue cryopreservation methods, including slow freezing/rapid thawing (SF/RT) and vitrification/warming (V/W), focusing on morpho-functional status, follicle density, stromal cell integrity, and gene expression during in vitro culture. However, results remain inconclusive. This study aims to evaluate the effects of SF/RT and V/W on the ovarian cortex's biomechanical properties. Human ovarian biopsies were taken from five women between 32 and 45 years undergoing laparoscopic surgery for tubal sterilization. For each patient, one small sample of fresh tissue was used as control, and the remaining tissue were vitrified or frozen by slow freezing method. The tissue stiffness of the cryopreserved samples at the micrometer scale was measured by Atomic Force Microscopy after thawing and warming, depending of the cryopreservation method. The median stiffness of the ovarian cortex was 3670.00 Pa (Pascal) (IQR 2146.4) in the control group. After cryopreservation, the median stiffness slightly decreased to 1305.90 Pa (IQR 503.51) with SF/RT and to 2284.50 Pa (IQR 3314.40) with V/W. General linear model analysis revealed no significant effect of cryopreservation method on the ovarian cortex stiffness (F=2.750, p=0.071). No significant differences were observed based on the intra-sample zone studied by AFM. However, a significant inter-patient effect on tissue stiffness was identified (F=3.958, p=0.006). The study findings suggest that ovarian tissue freezing methods do not have a relevant impact on functional aspects of the extracellular matrix (ECM), suggesting that given the logistical advantages of vitrification, this technique should be prioritized.