DiPietro Erin E, Sarasua Sara M, Hopkins Casey S, Ganakammal Satishkumar Ranganathan, Boccuto Luigi, Hurwitz Joshua
School of Nursing, Clemson University, Clemson, SC, United States.
Illume Fertility Center, Norwalk, CT, United States.
Front Endocrinol (Lausanne). 2025 Jun 4;16:1458711. doi: 10.3389/fendo.2025.1458711. eCollection 2025.
The genetic components of the etiologies of ovulatory dysfunction-related infertility (ODRI) are poorly characterized.
This paper aimed to comprehensively identify, compile, and categorize published research on relationships between genetics and ovulatory-related infertility in humans.
A scoping review was performed on research articles relating human genes, ovulatory dysfunction, and infertility retrieved from PubMed and Web of Science databases. A total of 45 articles were included in the study. The data has been organized into three categories based on relevant findings: polycystic ovary syndrome (PCOS), premature ovarian insufficiency (POI), and other diagnoses related to ovulatory dysfunction and infertility.
Sources revealed 235 different genes linked to ovulatory dysfunction and infertility including follicle-stimulating hormone receptor (), luteinizing hormone/choriogonadotropin receptor (), and bone morphogenic protein 15 (). PCOS-related articles revealed variants in genes with functions focused on androgen production, such as and . POI-related articles revealed variants in genes with functions focused on folliculogenesis and pubertal development, such as and , stromal antigen 3. The "other" category revealed genes resulting in enzyme deficiencies interacting with a wide range of functions.
In this review, we have highlighted the extreme variability in what is known about the genetics of ODRI by compiling and categorizing genes identified in the literature as associated with ODRI and its associated subtypes. We have also provided a comprehensive list of ODRI genes specifically identified in humans. The findings from this review, specifically the list of ODRI genes, can be used for targeted gene panel development in assisted reproductive technology to improve clinical testing and diagnosis, as well as in developing individualized treatment strategies for ODRI patients.
排卵功能障碍相关不孕症（ODRI）病因的遗传成分特征尚不明确。
本文旨在全面识别、汇编和分类已发表的关于人类遗传学与排卵相关不孕症之间关系的研究。
对从PubMed和Web of Science数据库检索到的有关人类基因、排卵功能障碍和不孕症的研究文章进行了范围综述。该研究共纳入45篇文章。根据相关研究结果，数据被分为三类：多囊卵巢综合征（PCOS）、卵巢早衰（POI）以及其他与排卵功能障碍和不孕症相关的诊断。
资料显示有235种不同基因与排卵功能障碍和不孕症相关，包括促卵泡激素受体、黄体生成素/绒毛膜促性腺激素受体和骨形态发生蛋白15。与PCOS相关的文章揭示了功能集中于雄激素产生的基因变异，如和。与POI相关的文章揭示了功能集中于卵泡发生和青春期发育的基因变异，如和基质抗原3。“其他”类别揭示了导致酶缺乏且与多种功能相互作用的基因。
在本综述中，我们通过汇编和分类文献中确定的与ODRI及其相关亚型相关的基因，突出了ODRI遗传学已知内容的极端变异性。我们还提供了在人类中明确鉴定出的ODRI基因的综合列表。本综述的研究结果，特别是ODRI基因列表，可用于辅助生殖技术中靶向基因panel的开发，以改善临床检测和诊断，以及为ODRI患者制定个体化治疗策略。
