JBRA Assisted Reproduction 2025;29(Suppl.2 SBRA 2025):105
Poster Presentation
29th Annual Congress of the SBRA. São Paulo/SP - Brazil, 2025
doi: 10.5935/1518-0557.20263721
1 Centro Universitário São Camilo - São Paulo - SP – Brasil
Objective: The objective of this study is to evaluate whether a family history of premature menopause and primary ovarian insufficiency can influence the ovarian reserve of women in menacme compared to women without this family history.
Methods: An integrative review was conducted in the following databases: MEDLINE (PUBMED) and LILACS (BVS). Searches were performed using controlled descriptors (MeSH and DeCS) combined with the Boolean operators "AND" and "OR". The following keywords were used: "Ovarian Reserve" AND "Premature Menopause" AND "Family History"; "Ovarian Reserve" OR "Ovarian Function" AND "Family History"; "Premature Menopause" OR "Primary Ovarian Insufficiency" AND "Family History". A filter was applied to select articles published within the last ten years and written in Portuguese, Spanish, or English. Selection was carried out by two independent reviewers who evaluated the titles and abstracts of the selected articles, and conflicts were resolved by a third. Potentially eligible articles were analyzed in full. After applying the exclusion criteria, 5 articles were selected.
Results: This literature review identified a significantly increased risk of developing primary ovarian insufficiency (POI) in women with first- or second-degree relatives who experienced premature menopause or POI. It was observed that 12.25% of women with POI reported a positive family history, and these women experienced a slower progression of ovarian failure, leading to a higher chance of pregnancy, likely due to the gradual loss of ovarian reserve. The association between family history and the early reduction in ovarian reserve markers, such as anti-mullerian hormone (AMH) and antral follicle count (AFC), reinforces the need for screening women with a family history for individualized reproductive guidance. A family history of POI increases the risk of developing premature ovarian failure by 4.3 times, regardless of other factors. Furthermore, studies indicate a significant genetic role for mutations in genes such as FSHR, FOXL2, BMP15, NOBOX, and FMR1 in compromising folliculogenesis and ovarian response, leading to premature ovarian failure, even with follicles present. In this context, genetic screening using advanced technologies such as array-CGH and next-generation sequencing (NGS) can identify alterations in women with idiopathic POI in up to 57.1% of cases, 45% of which are in those with a family history. The possible hereditary pattern of POI was reinforced by the identification of specific variants, such as homozygous mutations in FSHR and variants in the STAG3 gene, in women with POI and a family history. These mutations may accelerate ovarian failure in young women with a positive family history, supporting the idea of early identification of these alterations to guide early clinical interventions for fertility preservation.
Conclusion: The data found demonstrate the significant importance of a positive family history as a risk factor for the development of primary ovarian insufficiency (POI). The presence of premature menopause or POI in first or second-degree relatives is associated not only with an increased likelihood of developing the condition but also with a different pattern of clinical progression, which may include a higher chance of fertility preservation in some cases. Furthermore, the presence of specific genetic mutations in women with POI, especially those with a positive family history, suggests a possible hereditary pattern of the disease. However, no additional data were identified on the prevention of POI in women with a positive family history, such as prior investigation of anti-Müllerian hormone levels or definition of the most appropriate age range to initiate preventive measures. In this context, genetic screening, particularly among women with a positive family history, is essential for accurate diagnosis and individualized clinical guidance, enabling early interventions and effective strategies for fertility preservation.