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Oocyte maturation defect 9(OOMD9; OZEMA9)

MedGen UID:
1724427
Concept ID:
C5436599
Disease or Syndrome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 9
 
Gene (location): TRIP13 (5p15.33)
 
Monarch Initiative: MONDO:0033565
OMIM®: 619011

Definition

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. [from OMIM]

Clinical features

From HPO
Female infertility
MedGen UID:
5795
Concept ID:
C0021361
Pathologic Function
Infertility in a woman.
Abnormality of the menstrual cycle
MedGen UID:
893088
Concept ID:
C4025888
Finding
An abnormality of the ovulation cycle.
Oocyte arrest at metaphase I
MedGen UID:
897067
Concept ID:
C4227845
Cell or Molecular Dysfunction
Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.
Zygotic cleavage failure
MedGen UID:
1741839
Concept ID:
C5436598
Cell or Molecular Dysfunction
Failure of a fertilized oocyte to undergo the first round of cell division.

Professional guidelines

PubMed

van der Merwe JP, Kruger TF, Swart Y, Lombard CJ
Fertil Steril 1992 Sep;58(3):581-6. doi: 10.1016/s0015-0282(16)55267-4. PMID: 1521655

Recent clinical studies

Etiology

Hatirnaz Ş, Hatirnaz E, Urkmez SS, Celik S, Urkmez' YC, Cao M, Tan SL, Dahan MH
Reprod Biomed Online 2024 Apr;48(4):103648. Epub 2023 Oct 29 doi: 10.1016/j.rbmo.2023.103648. PMID: 38364519
Hatirnaz S, Hatirnaz E, Urkmez SS, Calıskan CS, Celik S, Hatirnaz K, Cao M, Tan SL, Dahan MH
Reprod Biomed Online 2024 Mar;48(3):103620. Epub 2023 Oct 14 doi: 10.1016/j.rbmo.2023.103620. PMID: 38194886
Predheepan D, Daddangadi A, Uppangala S, Laxminarayana SLK, Raval K, Kalthur G, Kovačič B, Adiga SK
Endocrinology 2022 Sep 1;163(9) doi: 10.1210/endocr/bqac121. PMID: 35917567
Delimitreva SM, Boneva GV, Chakarova IV, Hadzhinesheva VP, Zhivkova RS, Markova MD, Nikolova VP, Kolarov AI, Mladenov NJ, Bradyanova SL, Tchorbanov AI
J Reprod Immunol 2021 Nov;148:103370. Epub 2021 Sep 2 doi: 10.1016/j.jri.2021.103370. PMID: 34492566
Tyc KM, El Yakoubi W, Bag A, Landis J, Zhan Y, Treff NR, Scott RT, Tao X, Schindler K, Xing J
Hum Reprod 2020 Sep 1;35(9):2134-2148. doi: 10.1093/humrep/deaa148. PMID: 32772081Free PMC Article

Diagnosis

Lanuza-López MC, Martínez-Garza SG, Solórzano-Vázquez JF, Paz-Cervantes D, González-Ortega C, Maldonado-Rosas I, Villegas-Moreno G, Villar-Muñoz LG, Arroyo-Méndez FA, Gutiérrez-Gutiérrez AM, Piña-Aguilar RE
Gynecol Endocrinol 2020 Sep;36(9):829-834. Epub 2020 Feb 17 doi: 10.1080/09513590.2020.1725968. PMID: 32063091
Guerri G, Maniscalchi T, Barati S, Gerli S, Di Renzo GC, Della Morte C, Marceddu G, Casadei A, Laganà AS, Sturla D, Ghezzi F, Garzon S, Unfer V, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):68-74. doi: 10.23750/abm.v90i10-S.8763. PMID: 31577258Free PMC Article
Jezela-Stanek A, Chorostowska-Wynimko J
Adv Clin Exp Med 2019 Sep;28(9):1257-1261. doi: 10.17219/acem/103668. PMID: 30929319
Persani L, Rossetti R, Di Pasquale E, Cacciatore C, Fabre S
Hum Reprod Update 2014 Nov-Dec;20(6):869-83. Epub 2014 Jun 30 doi: 10.1093/humupd/dmu036. PMID: 24980253
Kuhtz J, Romero S, De Vos M, Smitz J, Haaf T, Anckaert E
Hum Reprod 2014 Sep;29(9):1995-2005. Epub 2014 Jun 24 doi: 10.1093/humrep/deu155. PMID: 24963167

Therapy

Hatirnaz S, Hatirnaz E, Urkmez SS, Calıskan CS, Celik S, Hatirnaz K, Cao M, Tan SL, Dahan MH
Reprod Biomed Online 2024 Mar;48(3):103620. Epub 2023 Oct 14 doi: 10.1016/j.rbmo.2023.103620. PMID: 38194886
Zhang C, Yan L, Qiao J
J Assist Reprod Genet 2022 Sep;39(9):1969-1986. Epub 2022 Aug 4 doi: 10.1007/s10815-022-02533-w. PMID: 35925538Free PMC Article
Vuong LN, Le AH, Ho VNA, Pham TD, Sanchez F, Romero S, De Vos M, Ho TM, Gilchrist RB, Smitz J
J Assist Reprod Genet 2020 Feb;37(2):347-357. Epub 2020 Jan 4 doi: 10.1007/s10815-019-01677-6. PMID: 31902102Free PMC Article
Teramoto S, Osada H, Sato Y, Shozu M
Fertil Steril 2019 Apr;111(4):747-752. Epub 2019 Feb 28 doi: 10.1016/j.fertnstert.2018.11.038. PMID: 30826114
Harris SE, Maruthini D, Tang T, Balen AH, Picton HM
Hum Reprod 2010 Sep;25(9):2305-15. Epub 2010 Jul 21 doi: 10.1093/humrep/deq181. PMID: 20659909

Prognosis

Zhang T, Ma Q, Shen Q, Jiang C, Zou F, Shen Y, Wang Y
J Assist Reprod Genet 2022 Sep;39(9):2125-2134. Epub 2022 Jul 21 doi: 10.1007/s10815-022-02574-1. PMID: 35861920Free PMC Article
Tyc KM, El Yakoubi W, Bag A, Landis J, Zhan Y, Treff NR, Scott RT, Tao X, Schindler K, Xing J
Hum Reprod 2020 Sep 1;35(9):2134-2148. doi: 10.1093/humrep/deaa148. PMID: 32772081Free PMC Article
Lanuza-López MC, Martínez-Garza SG, Solórzano-Vázquez JF, Paz-Cervantes D, González-Ortega C, Maldonado-Rosas I, Villegas-Moreno G, Villar-Muñoz LG, Arroyo-Méndez FA, Gutiérrez-Gutiérrez AM, Piña-Aguilar RE
Gynecol Endocrinol 2020 Sep;36(9):829-834. Epub 2020 Feb 17 doi: 10.1080/09513590.2020.1725968. PMID: 32063091
Yang P, Luan X, Peng Y, Chen T, Su S, Zhang C, Wang Z, Cheng L, Zhang X, Wang Y, Chen ZJ, Zhao H
Fertil Steril 2017 Jun;107(6):1364-1369. doi: 10.1016/j.fertnstert.2017.03.029. PMID: 28577617
Buckett WM, Chian RC, Dean NL, Sylvestre C, Holzer HE, Tan SL
Fertil Steril 2008 Sep;90(3):546-50. Epub 2007 Sep 27 doi: 10.1016/j.fertnstert.2007.06.107. PMID: 17904128

Clinical prediction guides

Hatirnaz Ş, Hatirnaz E, Urkmez SS, Celik S, Urkmez' YC, Cao M, Tan SL, Dahan MH
Reprod Biomed Online 2024 Apr;48(4):103648. Epub 2023 Oct 29 doi: 10.1016/j.rbmo.2023.103648. PMID: 38364519
Hu T, Li C, Qiao S, Liu W, Han W, Li W, Shi R, Xue X, Shi J, Huang G, Lin T
J Ovarian Res 2023 Nov 25;16(1):228. doi: 10.1186/s13048-023-01274-3. PMID: 38007525Free PMC Article
Predheepan D, Daddangadi A, Uppangala S, Laxminarayana SLK, Raval K, Kalthur G, Kovačič B, Adiga SK
Endocrinology 2022 Sep 1;163(9) doi: 10.1210/endocr/bqac121. PMID: 35917567
Tyc KM, El Yakoubi W, Bag A, Landis J, Zhan Y, Treff NR, Scott RT, Tao X, Schindler K, Xing J
Hum Reprod 2020 Sep 1;35(9):2134-2148. doi: 10.1093/humrep/deaa148. PMID: 32772081Free PMC Article
Yang P, Luan X, Peng Y, Chen T, Su S, Zhang C, Wang Z, Cheng L, Zhang X, Wang Y, Chen ZJ, Zhao H
Fertil Steril 2017 Jun;107(6):1364-1369. doi: 10.1016/j.fertnstert.2017.03.029. PMID: 28577617

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