Michelle J Bayefsky, Ashna Mehra, Carlos Hernandez-Nieto, Erynne Jackson, Joseph A Lee, Alan B Copperman, Devora Aharon
{"title":"Corrigendum to \"Preimplantation genetic testing for aneuploidy in donor egg recipients does not decrease number of embryo transfers needed to achieve live birth\" (Fertil Steril 2026;123:527-33).","authors":"Michelle J Bayefsky, Ashna Mehra, Carlos Hernandez-Nieto, Erynne Jackson, Joseph A Lee, Alan B Copperman, Devora Aharon","doi":"10.1016/j.fertnstert.2026.09.016","DOIUrl":"https://doi.org/10.1016/j.fertnstert.2026.09.016","url":null,"abstract":"","PeriodicalId":12275,"journal":{"name":"Fertility and sterility","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149227491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Fertility evaluation of infertile women: a committee opinion.","authors":"","doi":"10.1016/j.fertnstert.2026.08.686","DOIUrl":"https://doi.org/10.1016/j.fertnstert.2026.08.686","url":null,"abstract":"<p><p>Diagnostic evaluation for infertility in women should be conducted in a systematic, expeditious, and cost-effective manner to identify all the relevant factors with an initial emphasis on the least invasive methods for detecting the most common causes of infertility. The purpose of this committee opinion is to provide a critical review of the current methods and procedures for the evaluation of infertile women, and it replaces the document of the same name, last published in 2021 (Fertil Steril 2021;116:1255-65).</p>","PeriodicalId":12275,"journal":{"name":"Fertility and sterility","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149227481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tzu Hsiang Weng, Chia-Chen Lee, Kuan-Sheng Lee, Christine Shang-Chi Chiu, Robert Kuo-Kuang Lee, Ming-Huei Lin
{"title":"Strategy-Based Comparison of Fresh Double Embryo Transfer Versus Sequential Single Embryo Transfers in Women With Adequate Blastocyst Availability.","authors":"Tzu Hsiang Weng, Chia-Chen Lee, Kuan-Sheng Lee, Christine Shang-Chi Chiu, Robert Kuo-Kuang Lee, Ming-Huei Lin","doi":"10.1016/j.fertnstert.2026.10.013","DOIUrl":"https://doi.org/10.1016/j.fertnstert.2026.10.013","url":null,"abstract":"<p><strong>Objective: </strong>To compare the cumulative reproductive outcomes of two embryo transfer strategies in women with adequate blastocyst availability: immediate fresh double embryo transfer (DET) and a sequential strategy consisting of fresh single embryo transfer (SET) followed by frozen-thawed SET derived from the same retrieval cohort.</p><p><strong>Design: </strong>A retrospective cohort study was conducted at Taipei MacKay Memorial Hospital using clinical data from January 2017 to December 2023.</p><p><strong>Setting: </strong>A single tertiary reproductive center.</p><p><strong>Subjects: </strong>Women younger than 40 years with normal ovarian reserve and ≥ two good-quality blastocysts obtained from a single stimulation cycle.</p><p><strong>Exposure: </strong>Patients underwent either fresh DET or sequential SET that included a second transfer within three years.</p><p><strong>Main outcome measures: </strong>Cumulative clinical pregnancy rate (CCPR) and cumulative live birth rate (CLBR) per retrieval cycle.</p><p><strong>Results: </strong>A total of 256 patients were included: 135 in the sequential SET group (33.39 ± 3.13 years) and 121 in the fresh DET group (35.41 ± 2.87 years). The CCPR was significantly higher in the sequential SET group than in the fresh DET group (86.7% vs.61.2%; RR: 1.42, 95% CI: 1.21-1.66), as was the CLBR (63.7% vs.51.2%; RR: 1.24, 95% CI: 1.00-1.54). Although the initial pregnancy rate was lower in the group who would have sequential SET than fresh DET (41.4% vs.61.2%), cumulative pregnancy outcomes improved substantially after the second transfer in the SET cohort. The miscarriage rate did not differ significantly between the sequential SET and fresh DET groups (24.7% vs. 14.9%; RR: 1.67, 95% CI: 0.89-3.13), whereas the twin pregnancy rate was markedly lower (0% vs.14.9%, p < 0.001) in the sequential SET group. Based on pooled neonatal data irrespective of plurality, mean gestational age (38.47 vs.37.41 weeks, p = 0.69) and mean birth weight (3065 vs.2773 g, p = 0.09) were comparable between groups. Preterm births per oocyte retrieval cycle were significantly less frequent following sequential SET than fresh DET (2 vs.16, p < 0.001).</p><p><strong>Conclusions: </strong>Among patients with favorable embryo availability, sequential SET demonstrated higher cumulative reproductive outcomes within a strategy-based framework than fresh DET. These findings reflect differences in embryo utilization pathways rather than in isolated transfer efficacy; they should be interpreted in the context of treatment continuation and cohort selection.</p>","PeriodicalId":12275,"journal":{"name":"Fertility and sterility","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sanjana Satish, Joshua Ewy, Christos Coutifaris, Allen R Kunselman, Christina M Stetter, Richard S Legro, Anuja Dokras
{"title":"Health-Related Quality of Life, Mood, and Sexual Function in Polycystic Ovary Syndrome (PCOS): Assessing the Impact of Combined Oral Contraceptive Pills and Metformin Therapy (characters with spaces: 175, limit 125).","authors":"Sanjana Satish, Joshua Ewy, Christos Coutifaris, Allen R Kunselman, Christina M Stetter, Richard S Legro, Anuja Dokras","doi":"10.1016/j.fertnstert.2026.10.010","DOIUrl":"https://doi.org/10.1016/j.fertnstert.2026.10.010","url":null,"abstract":"<p><strong>Objective: </strong>To study the effects of combined oral contraceptive pills (COCPs), metformin, and their combination on health-related quality of life, depression, anxiety, and sexual function in women with hyperandrogenic polyendocrine metabolic ovarian syndrome (PMOS) and elevated BMI.</p><p><strong>Design: </strong>Secondary analysis of a double-blind, double-dummy, parallel, randomized controlled trial (COMET-PCOS).</p><p><strong>Subjects: </strong>240 women aged 21-40 years with hyperandrogenic PMOS and BMI ≥25 kg/m<sup>2</sup>, randomized to COCP, metformin, or COCP+metformin; analyses were subset to subjects with a response at both baseline and end of study.</p><p><strong>Intervention: </strong>Six months of COCP (20μg ethinyl estradiol/0.15 mg desogestrel), metformin XR 2000 mg/day, or combination therapy.</p><p><strong>Main outcome measures: </strong>Changes from baseline to study end in modified PCOS Health Related Quality of Life (mPCOSQ) domains, Center for Epidemiologic Studies Depression Scale (CES-D), State-Trait Anxiety Inventory (STAI Y-1 and Y-2), Female Sexual Function Index (FSFI) and Female Sexual Distress Scale (FSDS).</p><p><strong>Results: </strong>Compared to baseline, mPCOSQ scores improved across all domains in the combination group (n=60, p<0.01), COCP group (n=56, p<0.01, except menstrual health and acne domains), and metformin group (n=51, p<0.05, except body hair and weight domains). Depressive symptoms and depression prevalence were unchanged in the COCP and combined group but improved in the metformin group (p<0.001). State anxiety improved in the metformin and combined groups (p<0.01); trait anxiety improved across all groups (p<0.05). FSFI scores were lower in the COCP group for the desire (p<0.001) and arousal (p=0.03) domains with no difference in total score (p=0.07); however, sexual distress decreased in both the COCP (p=0.03) and metformin groups (p=0.03). There were no significant changes in the prevalence of sexual dysfunction in any group.</p><p><strong>Conclusion: </strong>Although COCPs and metformin are commonly used to manage PMOS, limited data exist on their impact on mental and sexual health. Our study demonstrates favorable or neutral effects of these therapies on mental health and quality of life in women with hyperandrogenic PMOS and elevated BMI. Metformin improved depressive symptoms and anxiety, while COCPs produced modest reductions in sexual desire without increasing sexual distress or dysfunction. These findings provide clinically relevant data for counseling women with PMOS, a group at high risk for mental health disorders.</p>","PeriodicalId":12275,"journal":{"name":"Fertility and sterility","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gideon Verwoerd, Robert West, Jinfeng Cai, Yunyan Chen, Athanasios Papathanasiou
{"title":"The Effect of Male Partner Smoking on Cumulative Live Birth after In vitro Fertilization (IVF): a Large Prospective Cohort Study.","authors":"Gideon Verwoerd, Robert West, Jinfeng Cai, Yunyan Chen, Athanasios Papathanasiou","doi":"10.1016/j.fertnstert.2026.10.011","DOIUrl":"https://doi.org/10.1016/j.fertnstert.2026.10.011","url":null,"abstract":"<p><strong>Objective: </strong>To compare the cumulative live birth rates after one oocyte retrieval among smoke-free couples and couples where only the male partner smoked cigarettes (after using fresh and frozen embryos).</p><p><strong>Design: </strong>Prospective cohort study SUBJECTS: : 1,388 couples undergoing in vitro fertilization (IVF) treatment (one oocyte retrieval each) between 1 August 2019 to 10 June 2021 at a tertiary level hospital IVF center in Kunming, China. Follow-up data were collected for up to three years and nine months after embryo transfer and four years after recruitment of the first couple.</p><p><strong>Exposure: </strong>Cigarette smoking among male partners MAIN OUTCOME MEASURES: : Cumulative live birth and early pregnancy loss rates RESULTS: : After adjusting for woman's age, man's age, woman's BMI, man's BMI, woman's educational level, man's educational level, duration of infertility, primary versus secondary infertility, insemination method and baseline infertility cause variables, the relative risk (RR) for achieving a cumulative live birth for couples where the male partner consumed < 20 cigarettes per day was not significantly different from smoke-free couples (RR = 0.92, 95% CI 0.84 - 1.02) but 19.0% lower for couples where the male partner consumed ≥ 20 cigarettes per day (RR = 0.81, 95% CI 0.71 - 0.93). The adverse effect of male partner smoking was significant before achieving a fetal heartbeat in both groups of smokers, but more obvious in heavy smokers (RR = 0.89, 95% CI 0.81 - 0.98 and 0.78, 95% CI 0.68 - 0.89). Once a fetal heartbeat had been established, there was no evidence of any further impact on cumulative live birth rate.</p><p><strong>Conclusion: </strong>Couples who need IVF treatment should be counselled that male partner smoking could reduce their chances of having a baby.</p>","PeriodicalId":12275,"journal":{"name":"Fertility and sterility","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149223613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mahmoud Salama, Veronica Gomez-Lobo, Clarisa Gracia, Teresa K Woodruff
{"title":"Oocyte Cryopreservation Before and During Puberty: Experimental to Emerging Practice.","authors":"Mahmoud Salama, Veronica Gomez-Lobo, Clarisa Gracia, Teresa K Woodruff","doi":"10.1016/j.fertnstert.2026.10.006","DOIUrl":"https://doi.org/10.1016/j.fertnstert.2026.10.006","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the published clinical data on oocyte cryopreservation as an option for preserving the reproductive potential of females before and during puberty, while addressing the research gaps, recent advancements and future directions in the field.</p><p><strong>Design: </strong>Narrative review SUBJECTS: Not applicable.</p><p><strong>Intervention (for rct) or exposure (for observational studies): </strong>Not applicable.</p><p><strong>Main outcome measures: </strong>Not applicable.</p><p><strong>Results: </strong>Oocyte cryopreservation to preserve the reproductive potential in various benign and malignant conditions can be obtained through controlled ovarian stimulation (with cryopreservation of mature oocytes or in-vitro-maturation of immature oocytes) or in-vitro maturation at the time of ovarian tissue cryopreservation. These techniques have different levels of clinical maturity and evidence of success. Published clinical data, though limited, supports the feasibility of oocyte cryopreservation through these varying techniques before and during puberty and especially after menarche. The reproductive potential of these oocytes including the risk for aneuploidy, however, has not been evaluated and uncertainties regarding potential long-term effects of ovarian stimulation and the psychosocial impact in young populations remain. As the utilization of oocyte cryopreservation before and during puberty continues to expand, long-term follow-up studies will be essential to define both safety and reproductive effectiveness. The future of fertility preservation for girls before and during puberty will not be defined by any single clinical innovation such as oocyte cryopreservation but also the convergence of advances across eIVFG, artificial ovary engineering, neoadjuvant fertoprotective pharmacology targeting the CHEK2-Tap63a axis and complementary DNA damage response pathways, and broader emerging biotechnologies which are described here.</p><p><strong>Conclusion: </strong>Despite limitations, published data support the feasibility of oocyte cryopreservation before and during puberty in various benign and malignant conditions. However, long-term follow-up studies are required to define safety and reproductive effectiveness.</p>","PeriodicalId":12275,"journal":{"name":"Fertility and sterility","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149180323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yan Li, Jiayin Zhou, Haoming Huang, Seereipanha Ly, Shuyuan Zhang, Chenyuan Liu, Jingjing Wang, Liu Jiang, Kun Qian
{"title":"Joint associations of endometrial thickness and pattern with live birth after fresh and frozen-thawed embryo transfer: a retrospective cohort study of 45,729 cycles.","authors":"Yan Li, Jiayin Zhou, Haoming Huang, Seereipanha Ly, Shuyuan Zhang, Chenyuan Liu, Jingjing Wang, Liu Jiang, Kun Qian","doi":"10.1016/j.fertnstert.2026.10.008","DOIUrl":"https://doi.org/10.1016/j.fertnstert.2026.10.008","url":null,"abstract":"<p><strong>Objective: </strong>To investigate how endometrial thickness and pattern jointly relate to live birth in fresh and frozen-thawed embryo transfer cycles.</p><p><strong>Design: </strong>Retrospective cohort study.</p><p><strong>Subjects: </strong>A total of 45,729 embryo transfer cycles performed between January 2018 and August 2022, including 16,566 fresh and 29,163 frozen-thawed cycles.</p><p><strong>Exposure: </strong>Endometrial thickness and pattern were assessed by transvaginal ultrasound on the trigger day in fresh cycles and on the day of progesterone initiation in frozen-thawed cycles. Fresh and frozen-thawed cycles were analyzed separately.</p><p><strong>Main outcome measures: </strong>Live birth per embryo transfer cycle.</p><p><strong>Results: </strong>In both fresh and frozen-thawed cycles, restricted cubic spline analyses demonstrated significant overall and nonlinear associations between endometrial thickness and live birth (all P<0.001), while non-A morphology was associated with a lower adjusted live birth risk than type A morphology in no-interaction modified Poisson models (fresh: aRR, 0.880; 95% CI, 0.832-0.930; frozen-thawed: aRR, 0.892; 95% CI, 0.863-0.923). In fresh cycles, type B/C was associated with lower live birth risk than type A within the 7.0-7.9 mm and 8.0-8.9 mm strata. In frozen-thawed cycles, live birth rates increased from 16.7% in the <7 mm B/C group to 44.7% in the ≥14 mm A group, with a significant type A advantage within strata below 10 mm. In some frozen-cycle comparisons, thinner type A endometrium significantly outperformed the adjacent thicker B/C stratum, indicating that type A morphology was associated with higher live birth rates within thinner endometrial strata. Adjusted spline curves showed that live birth risk increased most rapidly at lower thicknesses, with the slope beginning to attenuate at approximately 11-12 mm in fresh cycles and 9-10 mm in frozen-thawed cycles. Sensitivity analyses reproduced the same overall pattern. Additionally, endometrial thickness and morphology varied with ovarian stimulation protocol and gonadotropin duration in fresh cycles, and with endometrial preparation regimen in frozen-thawed cycles.</p><p><strong>Conclusion: </strong>Endometrial thickness showed a nonlinear association with live birth, and trilaminar morphology was associated with higher adjusted live birth rates in both fresh and frozen-thawed embryo transfer cycles. The prognostic contribution of endometrial pattern was most evident in thin-to-intermediate endometrium.</p>","PeriodicalId":12275,"journal":{"name":"Fertility and sterility","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149180391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alexandra Herweck, Parker Bussies, Ecem Esencan, Eve C Feinberg
{"title":"When Absence of Evidence Is Not Evidence of Absence: Limitations of Claims-Based Assessments of Fertility Care.","authors":"Alexandra Herweck, Parker Bussies, Ecem Esencan, Eve C Feinberg","doi":"10.1016/j.fertnstert.2026.10.003","DOIUrl":"https://doi.org/10.1016/j.fertnstert.2026.10.003","url":null,"abstract":"","PeriodicalId":12275,"journal":{"name":"Fertility and sterility","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149180389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"FERTILITY PRESERVATION AFTER GONADOTOXIC TREATMENT: CURRENT EVIDENCE, FEASIBILITY, AND OUTCOMES.","authors":"Emanuela Angelini, Kutluk H Oktay","doi":"10.1016/j.fertnstert.2026.10.005","DOIUrl":"https://doi.org/10.1016/j.fertnstert.2026.10.005","url":null,"abstract":"<p><p>Improved cancer survival has made reproductive health an essential component of survivorship care. Although fertility preservation has traditionally focused on interventions before gonadotoxic therapy, many survivors received no pretreatment intervention, stored insufficient reproductive material, or later require additional gonadotoxic therapy. Evidence guiding fertility preservation after exposure remains limited and heterogeneous. This review examines treatment-induced ovarian injury, assessment of residual reproductive potential, candidate selection and timing, available fertility-preservation strategies, reproductive outcomes, safety, and emerging restorative technologies. Previous gonadotoxic therapy should not be considered an absolute barrier to intervention. Management should instead integrate age, pretreatment and current ovarian reserve, treatment type and cumulative exposure, disease status, anticipated further therapy, and reproductive goals. Oocyte or embryo cryopreservation is generally preferred for postpubertal survivors with recruitable follicles, whereas ovarian tissue cryopreservation may be considered selectively. As the fertility preservation field continues to evolve, individualized prediction of residual reproductive potential and the development of safe fertility-restoring strategies are expected to redefine reproductive care for cancer survivors who present after gonadotoxic treatment.</p>","PeriodicalId":12275,"journal":{"name":"Fertility and sterility","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149180415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"FERTILITY PRESERVATION IN PATIENTS WITH GENETIC CONDITIONS PREDISPOSING TO POI.","authors":"Emanuela Angelini, Kutluk H Oktay","doi":"10.1016/j.fertnstert.2026.10.007","DOIUrl":"https://doi.org/10.1016/j.fertnstert.2026.10.007","url":null,"abstract":"<p><p>Advances in genomic medicine have substantially expanded the spectrum of genetic conditions associated with primary ovarian insufficiency (POI), enabling the identification of women and girls at risk of premature reproductive decline before irreversible loss of ovarian reserve occurs. Genetic forms of POI comprise a heterogeneous group of disorders characterized by distinct pathogenic mechanisms, highly variable trajectories of ovarian reserve decline, and markedly different windows of reproductive opportunity. Consequently, fertility preservation requires a disease-specific, individualized approach rather than a uniform management strategy. Current evidence indicates that successful fertility preservation depends on understanding the biological basis of ovarian dysfunction, accurately identifying the optimal window for intervention, and selecting the most appropriate strategy according to the underlying disorder and residual ovarian reserve. This review critically appraises the available evidence across major genetic conditions that predispose to POI or otherwise threaten reproductive potential, including Turner syndrome, FMR1 premutation, classic galactosemia, rare monogenic disorders, and hereditary cancer predisposition syndromes, focusing on mechanisms of reproductive impairment, patient selection, timing of intervention, fertility preservation strategies, reproductive outcomes, safety, and emerging technologies. Current evidence supports early referral following genetic diagnosis and longitudinal monitoring of ovarian reserve, as the opportunity for fertility preservation may be brief and unpredictable in many disorders. In hereditary cancer predisposition syndromes, reproductive risk may derive from intrinsic ovarian vulnerability, gonadotoxic treatment, and/or risk-reducing surgery, even when a direct gene-specific risk of POI is uncertain.</p>","PeriodicalId":12275,"journal":{"name":"Fertility and sterility","volume":" ","pages":""},"PeriodicalIF":8.1,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149180350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}