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Oocyte arrest at metaphase I

MedGen UID:
897067
Concept ID:
C4227845
Cell or Molecular Dysfunction
Synonym: Oocyte meiotic arrest at metaphase I
 
HPO: HP:0031516

Definition

Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOocyte arrest at metaphase I

Conditions with this feature

Oocyte maturation defect 2
MedGen UID:
903836
Concept ID:
C4225210
Disease or Syndrome
Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.
Oocyte maturation defect 4
MedGen UID:
1616340
Concept ID:
C4540284
Disease or Syndrome
Oocyte maturation defects due to mutation in PATL2 show phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest (Chen et al., 2017).
Oocyte maturation defect 9
MedGen UID:
1724427
Concept ID:
C5436599
Disease or Syndrome
Oocyte/zygote/embryo maturation arrest-9 (OZEMA9) is characterized by female infertility due to oocyte meiotic arrest at metaphase I in most patients. Abnormal zygotic cleavage has also been observed (Zhang et al., 2020). For a discussion of genetic heterogeneity of OZEMA, see 615774.

Professional guidelines

PubMed

Hemmings KE, Maruthini D, Vyjayanthi S, Hogg JE, Balen AH, Campbell BK, Leese HJ, Picton HM
Hum Reprod 2013 Apr;28(4):1031-44. Epub 2013 Jan 18 doi: 10.1093/humrep/des458. PMID: 23335609Free PMC Article
Delhanty JD, Penketh RJ
Hum Reprod 1990 Aug;5(6):699-702. doi: 10.1093/oxfordjournals.humrep.a137171. PMID: 2123883

Recent clinical studies

Etiology

Smits MAJ, Schomakers BV, van Weeghel M, Wever EJM, Wüst RCI, Dijk F, Janssens GE, Goddijn M, Mastenbroek S, Houtkooper RH, Hamer G
Hum Reprod 2023 Nov 2;38(11):2208-2220. doi: 10.1093/humrep/dead177. PMID: 37671592Free PMC Article
Wei L, Xia H, Liang Z, Yu H, Liang Z, Yang X, Li Y
J Assist Reprod Genet 2022 Oct;39(10):2215-2225. Epub 2022 Aug 26 doi: 10.1007/s10815-022-02596-9. PMID: 36018477Free PMC Article
Shan-Chi Chiu C, Hung TY, Lin MH, Kuo-Kuang Lee R, Weng YW, Hwu YM
Taiwan J Obstet Gynecol 2022 Jul;61(4):585-589. doi: 10.1016/j.tjog.2021.03.044. PMID: 35779904
Martin JH, Aitken RJ, Bromfield EG, Nixon B
Hum Reprod Update 2019 Mar 1;25(2):180-201. doi: 10.1093/humupd/dmy040. PMID: 30541031
Byskov AG, Andersen CY, Leonardsen L
Mol Cell Endocrinol 2002 Feb 22;187(1-2):189-96. doi: 10.1016/s0303-7207(01)00707-9. PMID: 11988327

Diagnosis

Silber SJ, Goldsmith S, Castleman L, Hayashi K
Reprod Sci 2024 May;31(5):1234-1245. Epub 2023 Dec 30 doi: 10.1007/s43032-023-01427-1. PMID: 38160209Free PMC Article
Amargant F, Zhou LT, Yuan Y, Nahar A, Krisher RL, Spate LD, Roberts RM, Prather RS, Rowell EE, Laronda MM, Duncan FE
Hum Reprod 2023 Oct 3;38(10):1938-1951. doi: 10.1093/humrep/dead162. PMID: 37608600
Huang L, Li W, Dai X, Zhao S, Xu B, Wang F, Jin RT, Luo L, Wu L, Jiang X, Cheng Y, Zou J, Xu C, Tong X, Fan HY, Zhao H, Bao J
Elife 2023 Jun 19;12 doi: 10.7554/eLife.85649. PMID: 37334967Free PMC Article
Capalbo A, Buonaiuto S, Figliuzzi M, Damaggio G, Girardi L, Caroselli S, Poli M, Patassini C, Cetinkaya M, Yuksel B, Azad A, Grøndahl ML, Hoffmann ER, Simón C, Colonna V, Kahraman S
Reprod Biomed Online 2022 Sep;45(3):508-518. Epub 2022 May 21 doi: 10.1016/j.rbmo.2022.05.009. PMID: 35798635
Swetloff A, Conne B, Huarte J, Pitetti JL, Nef S, Vassalli JD
Mol Biol Cell 2009 Dec;20(23):4951-61. Epub 2009 Oct 7 doi: 10.1091/mbc.e09-02-0123. PMID: 19812249Free PMC Article

Therapy

Amargant F, Zhou LT, Yuan Y, Nahar A, Krisher RL, Spate LD, Roberts RM, Prather RS, Rowell EE, Laronda MM, Duncan FE
Hum Reprod 2023 Oct 3;38(10):1938-1951. doi: 10.1093/humrep/dead162. PMID: 37608600
Capalbo A, Buonaiuto S, Figliuzzi M, Damaggio G, Girardi L, Caroselli S, Poli M, Patassini C, Cetinkaya M, Yuksel B, Azad A, Grøndahl ML, Hoffmann ER, Simón C, Colonna V, Kahraman S
Reprod Biomed Online 2022 Sep;45(3):508-518. Epub 2022 May 21 doi: 10.1016/j.rbmo.2022.05.009. PMID: 35798635
Zeng Y, Shi J, Xu S, Shi R, Wu T, Li H, Xue X, Zhu Y, Chen B, Sang Q, Wang L
Hum Reprod 2022 Mar 1;37(3):612-620. doi: 10.1093/humrep/deab281. PMID: 34997960
Blakemore JK, Grifo JA, DeVore SM, Hodes-Wertz B, Berkeley AS
Fertil Steril 2021 Jun;115(6):1511-1520. Epub 2021 Mar 9 doi: 10.1016/j.fertnstert.2021.01.011. PMID: 33712289
Hanna CB, Mudaliar D, John K, Allen CL, Sun L, Hawkinson JE, Schönbrunn E, Georg GI, Jensen JT
Biol Reprod 2020 Aug 4;103(2):368-377. doi: 10.1093/biolre/ioaa097. PMID: 32667031Free PMC Article

Prognosis

Salimov D, Lisovskaya T, Otsuki J, Gzgzyan A, Bogolyubova I, Bogolyubov D
Cells 2023 Jul 31;12(15) doi: 10.3390/cells12151976. PMID: 37566055Free PMC Article
Blakemore JK, Grifo JA, DeVore SM, Hodes-Wertz B, Berkeley AS
Fertil Steril 2021 Jun;115(6):1511-1520. Epub 2021 Mar 9 doi: 10.1016/j.fertnstert.2021.01.011. PMID: 33712289
Li Y, Liang Z, Liang Z, Yang X, Xia H, Yu H
Fertil Steril 2021 May;115(5):1318-1326. Epub 2021 Feb 20 doi: 10.1016/j.fertnstert.2020.11.037. PMID: 33622565
Yurttas P, Morency E, Coonrod SA
Reproduction 2010 May;139(5):809-23. Epub 2010 Jan 27 doi: 10.1530/REP-09-0538. PMID: 20106898
Jones KT
Hum Reprod Update 2008 Mar-Apr;14(2):143-58. Epub 2007 Dec 14 doi: 10.1093/humupd/dmm043. PMID: 18084010

Clinical prediction guides

Smits MAJ, Schomakers BV, van Weeghel M, Wever EJM, Wüst RCI, Dijk F, Janssens GE, Goddijn M, Mastenbroek S, Houtkooper RH, Hamer G
Hum Reprod 2023 Nov 2;38(11):2208-2220. doi: 10.1093/humrep/dead177. PMID: 37671592Free PMC Article
Li Y, Liang Z, Liang Z, Yang X, Xia H, Yu H
Fertil Steril 2021 May;115(5):1318-1326. Epub 2021 Feb 20 doi: 10.1016/j.fertnstert.2020.11.037. PMID: 33622565
Li J, Lu M, Zhang P, Hou E, Li T, Liu X, Xu X, Wang Z, Fan Y, Zhen X, Li R, Liu P, Yu Y, Hang J, Qiao J
Cell Cycle 2020 Sep;19(17):2182-2194. Epub 2020 Aug 11 doi: 10.1080/15384101.2020.1799295. PMID: 32779509Free PMC Article
Yurttas P, Morency E, Coonrod SA
Reproduction 2010 May;139(5):809-23. Epub 2010 Jan 27 doi: 10.1530/REP-09-0538. PMID: 20106898
Byskov AG, Andersen CY, Leonardsen L
Mol Cell Endocrinol 2002 Feb 22;187(1-2):189-96. doi: 10.1016/s0303-7207(01)00707-9. PMID: 11988327

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