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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.
See: Condition Record
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).
See: Condition Record
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.
See: Condition Record
Oocyte maturation defect 2
Oocyte maturation defect 4
Oocyte maturation defect 9

Professional guidelines

PubMed

Amino acid turnover by human oocytes is influenced by gamete developmental competence, patient characteristics and gonadotrophin treatment.
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
Cytogenetic analysis of unfertilized oocytes retrieved after treatment with the LHRH analogue, buserelin.
Delhanty JD, Penketh RJ
Hum Reprod 1990 Aug;5(6):699-702. doi: 10.1093/oxfordjournals.humrep.a137171. PMID: 2123883

Recent clinical studies

Etiology

Human ovarian aging is characterized by oxidative damage and mitochondrial dysfunction.
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
Disrupted expression of long non-coding RNAs in the human oocyte: the possible epigenetic culprits leading to recurrent oocyte maturation arrest.
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
Metaphase II (MII) human oocytes with smooth endoplasmic reticulum clusters do not affect blastocyst euploid rate.
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
DNA damage and repair in the female germline: contributions to ART.
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
Role of meiosis activating sterols, MAS, in induced oocyte maturation.
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

In Vitro Maturation, In Vitro Oogenesis, and Ovarian Longevity.
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
FGF2, LIF, and IGF1 (FLI) supplementation during human in vitro maturation enhances markers of gamete competence.
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
Biallelic variants in MAD2L1BP (p31(comet)) cause female infertility characterized by oocyte maturation arrest.
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
Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest.
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
Dcp1-bodies in mouse oocytes.
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

FGF2, LIF, and IGF1 (FLI) supplementation during human in vitro maturation enhances markers of gamete competence.
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
Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest.
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
Bi-allelic mutations in MOS cause female infertility characterized by preimplantation embryonic arrest.
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
Planned oocyte cryopreservation-10-15-year follow-up: return rates and cycle outcomes.
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
Development of WEE2 kinase inhibitors as novel non-hormonal female contraceptives that target meiosis†.
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

Chromatin Morphology in Human Germinal Vesicle Oocytes and Their Competence to Mature in Stimulated Cycles.
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
Planned oocyte cryopreservation-10-15-year follow-up: return rates and cycle outcomes.
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
Abnormal PIWI-interacting RNA profile and its association with the deformed extracellular matrix of oocytes from recurrent oocyte maturation arrest patients.
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
Use of proteomics to identify highly abundant maternal factors that drive the egg-to-embryo transition.
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
Meiosis in oocytes: predisposition to aneuploidy and its increased incidence with age.
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

Human ovarian aging is characterized by oxidative damage and mitochondrial dysfunction.
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
Abnormal PIWI-interacting RNA profile and its association with the deformed extracellular matrix of oocytes from recurrent oocyte maturation arrest patients.
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
Aberrant spliceosome expression and altered alternative splicing events correlate with maturation deficiency in human oocytes.
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
Use of proteomics to identify highly abundant maternal factors that drive the egg-to-embryo transition.
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
Role of meiosis activating sterols, MAS, in induced oocyte maturation.
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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