编辑丨王多鱼 排版丨水成文 不孕症 影响全球 12.6%-17.5% 的夫妇 ，是当前面临的一项重大公共卫生挑战。体外受精 （ IVF ） 作为 主要 助孕方式， 近年 来， 卵子成熟障碍 、受精障碍及早期胚胎发育阻滞等表型，被确认为导致反复助孕 失败 的重要 原因。 然而，由于表型分类未统一，且缺乏大规模队列研究，其遗传机制与临床诊断率仍不明确，制约了该疾病 的 精准识别与个体化干预策略的 推进 。 2025 年 10 月 16 日， 山东大学 陈子江 / 赵涵 团队联合中南大学/中信湘雅生殖与遗传专科医院 林戈 / 郑伟 团队、上海交通大学医学院 唐淑妍 团队 （ 张常龙 、 郑伟 、 张鸿惠 为共同第一作者） ， 在 Nature Medicine 期刊上 发表题为： Genetic architecture and phenotypic diversity of oocyte and early embryo competence defects in female infertility 的研究论文 。 该研究 首次系统性 提出" 卵子与早期胚胎 发育潜能缺陷 " （Oocyte and early ...

Core Viewpoint - The article discusses the increasing prevalence of premature ovarian failure (POF) among young women, highlighting personal stories that illustrate the emotional and physical challenges faced by those diagnosed with this condition [5][7][29]. Group 1: Personal Experiences - The article features the story of a 26-year-old woman, Yuan Yuan, who was diagnosed with POF after experiencing irregular menstrual cycles and low hormone levels, leading to feelings of confusion and despair [5][6][7]. - Another case is presented through Liu Le, who initially dismissed her symptoms as stress-related but later faced the harsh reality of POF after seeking medical advice [9][10][11]. - Both women express disbelief and frustration upon receiving their diagnoses, reflecting a common sentiment among young patients who associate POF with older age [11][12][22]. Group 2: Medical Insights - The article notes that the diagnosis of POF in women under 30 is becoming more common, with estimates suggesting that 5%-15% of POF patients fall into this age group [13]. - Factors contributing to POF include lifestyle choices such as extreme dieting and high stress levels, which can disrupt hormonal balance and menstrual cycles [13][14]. - Medical professionals emphasize that POF does not equate to infertility, as there remains a 5%-10% chance of pregnancy even with low hormone levels, provided that ovulation is monitored closely [29][30]. Group 3: Emotional and Social Impact - The emotional toll of POF is significant, with patients experiencing anxiety, relationship strain, and a sense of loss regarding their fertility and youth [17][18][20]. - The article highlights the importance of community support, as Yuan Yuan found solace in connecting with others facing similar challenges, which helped her shift her focus from despair to proactive health management [25][26]. - Liu Le's journey illustrates a gradual acceptance of her condition, leading her to prioritize her health over societal expectations regarding motherhood [30][31].

Core Insights - The article discusses the increasing prevalence of premature ovarian failure (POF) among young women, highlighting personal stories of individuals diagnosed with the condition and their struggles with acceptance and treatment options [2][3][8] Group 1: Diagnosis and Symptoms - Premature ovarian failure, or early ovarian insufficiency, is diagnosed when a woman's ovaries lose function before age 40, with symptoms including irregular menstruation and low hormone levels [3][8] - Many young women do not recognize missed periods as a serious health issue, often attributing it to stress or lifestyle factors [5][6] - The article notes that the percentage of patients diagnosed with POF under 30 is increasing, with estimates suggesting that 5%-15% of POF patients fall into this age group [8] Group 2: Treatment and Management - Hormonal treatments such as estrogen supplements are commonly prescribed, but many patients experience side effects and may resist taking them [3][6] - The article emphasizes the importance of psychological support and education for patients, as many initially struggle to accept their diagnosis and its implications for fertility [12][19] - Despite the diagnosis, there remains a possibility for pregnancy, with some patients successfully conceiving even with low hormone levels [18][19] Group 3: Emotional and Social Impact - The emotional toll of POF is significant, with patients experiencing anxiety, depression, and relationship strain due to their condition [10][12] - Social stigma and feelings of shame can lead to isolation, as patients may feel different from their peers [14][15] - Support groups and community connections are highlighted as beneficial for patients to share experiences and coping strategies [15][18]