收稿日期: 2024-09-13
网络出版日期: 2025-01-14
基金资助
海南省自然科学基金高层次人才基金资助项目(821RC732);山东省中医药科技项目(2020M085);滨州医学院“临床+X”项目(BY2021LCX26);滨州医学院科技计划项目(BY2018KJ04)
Diagnosis and advances in individualized management of resistant ovary syndrome and premature ovarian insufficiency
Received date: 2024-09-13
Online published: 2025-01-14
尚丹丹 , 刘萍 , 刘利贞 , 庞益伟 , 周超 . 卵巢抵抗综合征和早发性卵巢功能不全诊断与个体化管理进展[J]. 实用医学杂志, 2025 , 41(1) : 146 -152 . DOI: 10.3969/j.issn.1006-5725.2025.01.024
Resistant ovary syndrome (ROS) and premature ovarian insufficiency (POI) fall under the category of hypogonadotropic amenorrhea, sharing similar clinical features that often pose challenges in differentiation. ROS can be easily misdiagnosed as POI, which presents a significant obstacle to subsequent treatment. Therefore, it is crucial for patients with fertility requirements to have a clear understanding of the etiology, clinical features, and diagnostic criteria of ROS and POI in order to establish an early diagnosis and develop an appropriate treatment plan. This article provides a systematic and comprehensive discussion on the research progress regarding the etiology and pathogenesis, clinical features and diagnosis, as well as individualized management of ROS and POI. The aim is to offer reference for clinicians in achieving early clarification of diagnoses, avoiding misdiagnosis or mistreatment, while assisting patients in improving symptoms and realizing their fertility aspirations through personalized management.
| 1 | DE MORAES-RUEHSEN M, JONES G S. Premature ovarian failure [J]. Fertil Steril, 1967, 18(4): 440-461. doi:10.1016/s0015-0282(16)36362-2 |
| 2 | MU Z, SHEN S, LEI L. Resistant ovary syndrome: Pathogenesis and management strategies [J]. Front Med (Lausanne), 2022, 9:1030004. doi:10.3389/fmed.2022.1030004 |
| 3 | ZHAO S, ZHENG W, GU X, et al. Resistant ovary syndrome: Two case reports and a literature review of effective controlled ovarian stimulation in IVF [J]. Medicine (Baltimore), 2024, 103(18): e37886. doi:10.1097/md.0000000000037886 |
| 4 | JONES G S, DE MORAES-RUEHSEN M. A new syndrome of amenorrhae in association with hypergonadotropism and apparently normal ovarian follicular apparatus [J]. Am J Obstet Gynecol, 1969, 104(4): 597-600. doi:10.1016/s0002-9378(16)34255-7 |
| 5 | TOURAINE P, CHABBERT-BUFFET N, PLU-BUREAU G, et al. Premature ovarian insufficiency [J]. Nat Rev Dis Primers, 2024, 10(1): 63. doi:10.1038/s41572-024-00547-5 |
| 6 | ZHU L, XIAO N, ZHANG T, et al. Clinical and genetic analysis of an isolated follicle-stimulating hormone deficiency female patient [J]. J Assist Reprod Genet, 2020, 37(6): 1441-1448. doi:10.1007/s10815-020-01786-7 |
| 7 | LI Y, PAN P, YUAN P, et al. Successful live birth in a woman with resistant ovary syndrome following in vitro maturation of oocytes [J]. J Ovarian Res, 2016, 9(1): 54. doi:10.1186/s13048-016-0263-6 |
| 8 | FLAGEOLE C, TOUFAILY C, BERNARD D J, et al. Successful in vitro maturation of oocytes in a woman with gonadotropin-resistant ovary syndrome associated with a novel combination of FSH receptor gene variants: A case report [J]. J Assist Reprod Genet, 2019, 36(3): 425-432. doi:10.1007/s10815-018-1394-z |
| 9 | HE W B, DU J, YANG X W, et al. Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome [J]. Reprod Biomed Online, 2019, 38(3): 397-406. doi:10.1016/j.rbmo.2018.11.011 |
| 10 | KHOR S, LYU Q, KUANG Y, et al. Novel FSHR variants causing female resistant ovary syndrome [J]. Mol Genet Genomic Med, 2020, 8(2): e1082. doi:10.1002/mgg3.1082 |
| 11 | CHEN X, CHEN L, WANG Y, et al. Identification and characterization of novel compound heterozygous variants in FSHR causing primary ovarian insufficiency with resistant ovary syndrome [J]. Front Endocrinol (Lausanne), 2022, 13:1013894. doi:10.3389/fendo.2022.1013894 |
| 12 | 陈小琴,雷彩霞,奚燕萍,等. FSHR基因复合杂合新变异导致高促性腺激素闭经而不孕[J]. 激光生物学报,2021,30(4):378-384. |
| 13 | 闫慧,黄蕾,马小红,等. FSHR剪切变异c.299+2T>G致卵巢抵抗综合征的家系分析[J]. 生殖医学杂志,2023,32(2):245-251. |
| 14 | XI G, WANG W, FAZLANI S A, et al. C-type natriuretic peptide enhances mouse preantral follicle growth [J]. Reproduction, 2019, 157(5): 445-455. doi:10.1530/rep-18-0470 |
| 15 | MARINAKIS N M, TSOUTSOU E, SOFOCLEOUS C, et al. Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 gene [J]. Menopause, 2022, 29(4): 491-495. doi:10.1097/gme.0000000000001928 |
| 16 | MEHDIZADEH A, SOLEIMANI M, AMJADI F, et al. Implication of Novel BMP15 and GDF9 Variants in Unexpected Poor Ovarian Response [J]. Reprod Sci, 2024, 31(3): 840-850. doi:10.1007/s43032-023-01370-1 |
| 17 | DE CIAN M C, GREGOIRE E P, LE ROLLE M, et al. R-spondin2 signaling is required for oocyte-driven intercellular communication and follicular growth [J]. Cell Death Differ, 2020, 27(10): 2856-2871. doi:10.1038/s41418-020-0547-7 |
| 18 | LI H, CHANG T, MU H, et al. Case report: Birth achieved after effective ovarian stimulation combined with dexamethasone in a patient with resistant ovary syndrome [J]. J Ovarian Res, 2022, 15(1): 42. doi:10.1186/s13048-022-00976-4 |
| 19 | LUO W, KE H, TANG S, et al. Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants [J]. J Ovarian Res, 2023, 16(1): 39. doi:10.1186/s13048-023-01104-6 |
| 20 | KE H, TANG S, GUO T, et al. Landscape of pathogenic mutations in premature ovarian insufficiency [J]. Nat Med, 2023, 29(2): 483-492. doi:10.1038/s41591-022-02194-3 |
| 21 | TELFER E E, GROSBOIS J, ODEY Y L, et al. Making a good egg: Human oocyte health, aging, and in vitro development [J]. Physiol Rev, 2023, 103(4): 2623-2677. doi:10.1152/physrev.00032.2022 |
| 22 | SZELIGA A, CALIK-KSEPKA A, MACIEJEWSKA-JESKE M, et al. Autoimmune Diseases in Patients with Premature Ovarian Insufficiency-Our Current State of Knowledge [J]. Int J Mol Sci, 2021, 22(5): 2594. doi:10.3390/ijms22052594 |
| 23 | HE C Y, LEE D J, FOSTER K L, et al. Impact of ovarian insufficiency on bone health in childhood cancer survivors: Two cases [J]. Bone, 2024, 178:116930. doi:10.1016/j.bone.2023.116930 |
| 24 | DERKS B, RIVERA-CRUZ G, HAGEN-LILLEVIK S, et al. The hypergonadotropic hypogonadism conundrum of classic galactosemia [J]. Hum Reprod Update, 2023, 29(2): 246-258. doi:10.1093/humupd/dmac041 |
| 25 | ZHU X, LIU M, DONG R, et al. Mechanism Exploration of Environmental Pollutants on Premature Ovarian Insufficiency: A Systematic Review and Meta-analysis [J]. Reprod Sci, 2024, 31(1): 99-106. doi:10.1007/s43032-023-01326-5 |
| 26 | WEBBER L, DAVIES M, ANDERSON R, et al. ESHRE Guideline: Management of women with premature ovarian insufficiency [J]. Hum Reprod, 2016, 31(5): 926-937. doi:10.1093/humrep/dew027 |
| 27 | JONES A R, ENTICOTT J, EBELING P R, et al. Bone health in women with premature ovarian insufficiency/early menopause: A 23-year longitudinal analysis [J]. Hum Reprod, 2024, 39(5): 1013-1022. doi:10.1093/humrep/deae037 |
| 28 | VOGT E C, BRATLAND E, BERLAND S, et al. Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing [J]. Hum Reprod, 2024, 39(1): 177-189. doi:10.1093/humrep/dead233 |
| 29 | ANDERSON R A, AMANT F, BRAAT D, et al. ESHRE guideline: Female fertility preservation [J]. Hum Reprod Open, 2020, 2020(4): hoaa052. doi:10.1093/hropen/hoaa052 |
| 30 | KORNILOV N V, PAVLOVA M N, YAKOVLEV P P. The live birth in a woman with resistant ovary syndrome after in vitro oocyte maturation and preimplantation genetic testing for aneuploidy [J]. J Assist Reprod Genet, 2021, 38(6): 1303-1309. doi:10.1007/s10815-021-02085-5 |
| 31 | ASLAM M F, GILMOUR K, MCCUNE G S. Spontaneous pregnancies in patients with resistant ovary syndrome while on HRT [J]. J Obstet Gynaecol, 2004, 24(5): 573-574. doi:10.1080/01443610410001722707 |
| 32 | ZHANG F, ZHANG H, DU H, et al. Application value of Early-Follicular Phase Long-Acting Gonadotropin-Releasing Hormone Agonist Long Protocol in patients with resistant ovary syndrome [J]. BMC Pregnancy Childbirth, 2023, 23(1): 178. doi:10.1186/s12884-023-05477-w |
| 33 | WANG J, LIU B, WEN J, et al. The Role of Dehydroepiandrosterone in Improving in vitro Fertilization Outcome in Patients with DOR/POR: A Systematic Review and Meta- Analysis [J]. Comb Chem High Throughput Screen, 2023, 26(5): 916-927. doi:10.2174/1386207325666220820164357 |
| 34 | CHANG C W, SUNG Y W, HSUEH Y W, et al. Growth hormone in fertility and infertility: Mechanisms of action and clinical applications [J]. Front Endocrinol (Lausanne), 2022, 13:1040503. doi:10.3389/fendo.2022.1040503 |
| 35 | MU Z, SONG J, YU Y, et al. Successful live birth in a woman with resistant ovary syndrome treated with letrozole and HMG: A case report [J]. Medicine (Baltimore), 2020, 99(20): e20199. doi:10.1097/md.0000000000020199 |
| 36 | LE H L, HO V N A, LE T T N, et al. Live birth after in vitro maturation in women with gonadotropin resistance ovary syndrome: report of two cases [J]. J Assist Reprod Genet, 2021, 38(12): 3243-3249. doi:10.1007/s10815-021-02355-2 |
| 37 | Practice Committee of the American Society for Reproductive Medicine. Evidence-based outcomes after oocyte cryopreservation for donor oocyte in vitro fertilization and planned oocyte cryopreservation: A guideline [J]. Fertil Steril, 2021, 116(1): 36-47. doi:10.1016/j.fertnstert.2021.02.024 |
| 38 | PEREIRA N. Laparoscopic ovarian surgery to induce follicular response in patients with premature ovarian insufficiency, diminished ovarian reserve, or resistant ovary syndrome [J]. Fertil Steril, 2020, 114(6): 1197. doi:10.1016/j.fertnstert.2020.09.168 |
| 39 | TANAKA Y, HSUEH A J, KAWAMURA K. Surgical approaches of drug-free in vitro activation and laparoscopic ovarian incision to treat patients with ovarian infertility [J]. Fertil Steril, 2020, 114(6): 1355-1357. doi:10.1016/j.fertnstert.2020.07.029 |
| 40 | 黄翠霞,张雅倩,杨爱萍,等. 基于Hippo/YAP信号通路探讨穿心莲内酯抗三阴性乳腺癌的作用机制[J]. 实用医学杂志,2023,39(16):2050-2056. doi:10.3969/j.issn.1006-5725.2023.16.007 |
| 41 | 何其达,方茂霖,钟正宏,等. 电针联合督脉灸治疗卵巢抵抗综合征不孕临床研究[J]. 中华中医药杂志,2023,38(8):3948-3950. |
| 42 | PAZIANAS M. Effectiveness of calcium and vitamin D supplementation in osteoporosis [J]. Ann N Y Acad Sci, 2018, 1433(1): 5-6. doi:10.1111/nyas.13658 |
| 43 | RUAN X, XU C, HUANG H, et al. Practice guideline on ovarian tissue cryopreservation and transplantation in the prevention and treatment of iatrogenic premature ovarian insufficiency [J]. Maturitas, 2024, 182:107922. doi:10.1016/j.maturitas.2024.107922 |
| 44 | BAHREHBAR K, GHOLAMI S, NAZARI Z, et al. Embryonic stem cells-derived mesenchymal stem cells do not differentiate into ovarian cells but improve ovarian function in POF mice [J]. Biochem Biophys Res Commun, 2022, 635:92-98. doi:10.1016/j.bbrc.2022.10.014 |
| 45 | BHARTIYA D, SINGH P, SHARMA D, et al. Very small embryonic-like stem cells (VSELs) regenerate whereas mesenchymal stromal cells (MSCs) rejuvenate diseased reproductive tissues [J]. Stem Cell Rev Rep, 2022, 18(5): 1718-1727. doi:10.1007/s12015-021-10243-6 |
| 46 | 王媞尔,史明霞. 间充质干细胞旁分泌作用的研究进展[J]. 实用医学杂志,2021,37(13):1651-1654. |
| 47 | KIM H K, KIM T J. Current Status and Future Prospects of Stem Cell Therapy for Infertile Patients with Premature Ovarian Insufficiency [J]. Biomolecules, 2024, 14(2):242. doi:10.3390/biom14020242 |
| 48 | MOUSTAKI M, KONTOGEORGI A, TSANGKALOVA G, et al. Biological therapies for premature ovarian insufficiency: What is the evidence?[J]. Front Reprod Health, 2023, 5:1194575. doi:10.3389/frph.2023.1194575 |
| 49 | JANG H, HONG K, CHOI Y. Melatonin and Fertoprotective Adjuvants: Prevention against Premature Ovarian Failure during Chemotherapy [J]. Int J Mol Sci, 2017, 18(6):1221. doi:10.3390/ijms18061221 |
/
| 〈 |
|
〉 |