Prevalence of the Gene Premutation in Young Women with a Diminished Ovarian Reserve Included in an IVF Program: Implications for Clinical Practice

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2024 Aug 29

PMID 39202368

Authors

Ines Agusti

Marta Mendez

Aina Borras

Anna Goday

Marta Guimera

Sara Peralta

Laura Ribera

Laia Rodriguez-Revenga

Dolors Manau

Affiliations

Soon will be listed here.

Abstract

The relationship between premature ovarian insufficiency (FXPOI) and premutation in the 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 gene testing at our institution from January 2018 to December 2021. We compared the prevalence of 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 premutation in the DOR group (seven patients (7.69%)) than in the control group (one patient (1.32%)), Fisher-exact test -value = 0.012). We concluded that compared with the general population represented by young egg donors, the prevalence of 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, premutation should be determined in infertile young patients with DOR in order to give them adequate genetic counselling.

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