{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T14:03:19Z","timestamp":1787580199383,"version":"build-2736575974"},"reference-count":74,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T00:00:00Z","timestamp":1766102400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100004761","name":"Henan Provincial Natural Science Foundation","doi-asserted-by":"crossref","award":["242300420084"],"award-info":[{"award-number":["242300420084"]}],"id":[{"id":"10.13039\/501100004761","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Research project of young medical researchers in Henan Academy of Medical Sciences","award":["QNYJ2023012"],"award-info":[{"award-number":["QNYJ2023012"]}]},{"name":"High-Level Talents Internationalization Training Program of Henan Province","award":["CKQ20210040"],"award-info":[{"award-number":["CKQ20210040"]}]},{"name":"Young and Middle-aged Health Science and Technology Innovation Talent Program of Henan Province","award":["LJRC20250001"],"award-info":[{"award-number":["LJRC20250001"]}]},{"name":"Key Project of Medical Science and Technology in Henan Province","award":["SBGJ202102016"],"award-info":[{"award-number":["SBGJ202102016"]}]},{"name":"Project of the Key Laboratory of Birth Defect Prevention, National Health Commission","award":["NHCKLBDP2024010"],"award-info":[{"award-number":["NHCKLBDP2024010"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>As a member of the G protein-coupled receptor (GPCR) family, the follicle-stimulating hormone receptor (FSHR) plays a central role in the regulation of female reproduction. By specifically binding to follicle-stimulating hormone (FSH), FSHR regulates the proliferation and differentiation of granulosa cells, follicular development and estradiol (E2) synthesis. In this article, we summarized 37 clinically relevant mutations of the FSHR gene. These mutations are classified according to their functional impacts as follows: (1) Inactivating mutations are primarily located in the extracellular domain (ECD; e.g., p.Ala189Val) and the transmembrane domain (TMD; e.g., p.Asp224Val). These mutations cause receptor expression defects or signaling impairment, clinically manifesting as resistant ovary syndrome (ROS), premature ovarian failure (POF), or related disorders. These conditions are typically characterized by a preserved primordial follicle reserve but an arrested antral follicle development; (2) Activating mutations are concentrated in the TMD (e.g., p.Asp567Gly) and intracellular loops (ICLs; e.g., p.Val514Ala). They exhibit relaxed ligand specificity and result in ligand-independent constitutive activation. This leads to pregnancy-associated spontaneous ovarian hyperstimulation syndrome (sOHSS), characterized by enlarged ovaries containing multiple follicles and supraphysiologically elevated E2 levels. The review highlights the clinical utility of in vitro maturation (IVM) technology in assisted reproduction for patients with FSHR mutations. Clinical evidence demonstrates that mature oocytes are successfully obtained by circumventing FSH stimulation. Through a \u201cmolecular pathology \u2192 mutation classification \u2192 clinical phenotypes \u2192 therapeutic strategies\u201d framework, this review establishes a theoretical foundation for precise classification and individualized management of FSHR mutation-related reproductive disorders.<\/jats:p>","DOI":"10.1093\/biolre\/ioaf283","type":"journal-article","created":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T12:53:45Z","timestamp":1766062425000},"page":"722-743","source":"Crossref","is-referenced-by-count":4,"title":["The impact of follicle-stimulating hormone receptor mutations on female ovarian function and pregnancy outcomes: a systematic review"],"prefix":"10.1093","volume":"114","author":[{"given":"Zhan","family":"Qu","sequence":"first","affiliation":[{"name":"Henan Provincial People's Hospital, Reproductive Medical Center, Zhengzhou University People's Hospital , Zhengzhou , Henan,","place":["P.R. China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bei","family":"Yang","sequence":"additional","affiliation":[{"name":"Henan Provincial People's Hospital, Reproductive Medical Center, Zhengzhou University People's Hospital , Zhengzhou , Henan,","place":["P.R. China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Miao","sequence":"additional","affiliation":[{"name":"Jiyuan People\u2019s Hospital , Obstetrics and Gynecology Department, Jiyuan ,","place":["P.R. China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bei","family":"Wang","sequence":"additional","affiliation":[{"name":"Henan Provincial People\u2019s Hospital, Reproductive Medical Center, Henan Medical University , Zhengzhou , Henan,","place":["P.R. China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han","family":"Shi","sequence":"additional","affiliation":[{"name":"Henan Provincial People's Hospital, Reproductive Medical Center, Zhengzhou University People's Hospital , Zhengzhou , Henan,","place":["P.R. China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenchen","family":"Cui","sequence":"additional","affiliation":[{"name":"Reproductive Medical Center, Zhengzhou University People\u2019s Hospital, Provincial People\u2019s Hospital , Zhengzhou, Henan ,","place":["P.R. China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cuilian","family":"Zhang","sequence":"additional","affiliation":[{"name":"Reproductive Medical Center, Zhengzhou University People\u2019s Hospital, Provincial People\u2019s Hospital , Zhengzhou, Henan ,","place":["P.R. China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Zhao","sequence":"additional","affiliation":[{"name":"Reproductive Medical Center, Zhengzhou University People\u2019s Hospital, Provincial People\u2019s Hospital , Zhengzhou, Henan ,","place":["P.R. China"]},{"name":"NHC Key Laboratory of Birth Defects Prevention, Henan Academy of Innovations in Medical Science , Zhengzhou, Henan ,","place":["P.R. 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