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Absent zona pellucida

MedGen UID:
1054494
Concept ID:
CN377137
Finding
HPO: HP:6000328

Definition

Lack of the oocyte extracellular matrix region (zona pellucida). This feature can be observed following follicular aspiration (retrieval of eggs for fertility treatments). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent zona pellucida

Conditions with this feature

Female infertility due to zona pellucida defect
MedGen UID:
862728
Concept ID:
C4014291
Disease or Syndrome
Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.

Professional guidelines

PubMed

Plantinga RF, de Brouwer AP, Huygen PL, Kunst HP, Kremer H, Cremers CW
J Assoc Res Otolaryngol 2006 Jun;7(2):173-81. Epub 2006 Apr 25 doi: 10.1007/s10162-006-0033-z. PMID: 16718611Free PMC Article

Recent clinical studies

Etiology

Loeuillet C, Dhellemmes M, Cazin C, Kherraf ZE, Fourati Ben Mustapha S, Zouari R, Thierry-Mieg N, Arnoult C, Ray PF
Clin Genet 2022 Jul;102(1):22-29. Epub 2022 Jun 1 doi: 10.1111/cge.14144. PMID: 35460069Free PMC Article
Ji H, Shi X, Wang J, Cao S, Ling X, Zhang J, Shen R, Zhao C
Mol Reprod Dev 2020 Jan;87(1):191-201. Epub 2019 Dec 11 doi: 10.1002/mrd.23308. PMID: 31828871
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
Goud AP, Goud PT, Van Oostveldt P, Diamond MP, Dhont M
Fertil Steril 2004 Feb;81(2):323-31. doi: 10.1016/j.fertnstert.2003.06.033. PMID: 14967368
Clark GF, Dell A, Morris HR, Patankar M, Oehninger S, Seppälä M
Mol Hum Reprod 1997 Jan;3(1):5-13. doi: 10.1093/molehr/3.1.5. PMID: 9239703

Diagnosis

Loeuillet C, Dhellemmes M, Cazin C, Kherraf ZE, Fourati Ben Mustapha S, Zouari R, Thierry-Mieg N, Arnoult C, Ray PF
Clin Genet 2022 Jul;102(1):22-29. Epub 2022 Jun 1 doi: 10.1111/cge.14144. PMID: 35460069Free PMC Article
Zhang Z, Guo Q, Jia L, Zhou C, He S, Fang C, Zhang M, Sun P, Zeng Z, Wang M, Wang D, Liang X
Hum Mutat 2022 Feb;43(2):180-188. Epub 2021 Dec 19 doi: 10.1002/humu.24297. PMID: 34816529
Wang J, Yang X, Sun X, Ma L, Yin Y, He G, Zhang Y, Zhou J, Cai L, Liu J, Ma X
J Assist Reprod Genet 2021 Jun;38(6):1459-1468. Epub 2021 Mar 5 doi: 10.1007/s10815-021-02136-x. PMID: 33665726Free PMC Article
Yuan P, Li R, Li D, Zheng L, Ou S, Zhao H, Zhang Q, Wang W
J Assist Reprod Genet 2019 Apr;36(4):741-747. Epub 2019 Feb 18 doi: 10.1007/s10815-019-01404-1. PMID: 30778819Free PMC Article
Ramsebner R, Koenighofer M, Parzefall T, Lucas T, Schoefer C, Frei K
Int J Pediatr Otorhinolaryngol 2014 May;78(5):837-42. Epub 2014 Feb 26 doi: 10.1016/j.ijporl.2014.02.025. PMID: 24636747

Therapy

Liu J, Nagy Z, Joris H, Tournaye H, Devroey P, Van Steirteghem A
Hum Reprod 1995 Mar;10(3):626-9. doi: 10.1093/oxfordjournals.humrep.a136000. PMID: 7782443
Dubin NH, Bornstein DR, Gong Y
J Assist Reprod Genet 1995 Feb;12(2):147-52. doi: 10.1007/BF02211385. PMID: 7670274

Prognosis

Wang J, Yang X, Sun X, Ma L, Yin Y, He G, Zhang Y, Zhou J, Cai L, Liu J, Ma X
J Assist Reprod Genet 2021 Jun;38(6):1459-1468. Epub 2021 Mar 5 doi: 10.1007/s10815-021-02136-x. PMID: 33665726Free PMC Article
Ji H, Shi X, Wang J, Cao S, Ling X, Zhang J, Shen R, Zhao C
Mol Reprod Dev 2020 Jan;87(1):191-201. Epub 2019 Dec 11 doi: 10.1002/mrd.23308. PMID: 31828871
Nishimura K, Dioguardi E, Nishio S, Villa A, Han L, Matsuda T, Jovine L
Nat Commun 2019 Jul 12;10(1):3086. doi: 10.1038/s41467-019-10931-5. PMID: 31300655Free PMC Article
Yuan P, Li R, Li D, Zheng L, Ou S, Zhao H, Zhang Q, Wang W
J Assist Reprod Genet 2019 Apr;36(4):741-747. Epub 2019 Feb 18 doi: 10.1007/s10815-019-01404-1. PMID: 30778819Free 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

Clinical prediction guides

Regin M, Essahib W, Demtschenko A, Dewandre D, David L, Gerri C, Niakan KK, Verheyen G, Tournaye H, Sterckx J, Sermon K, Van De Velde H
Hum Reprod 2023 Aug 1;38(8):1484-1498. doi: 10.1093/humrep/dead107. PMID: 37295962
Nikiforov D, Cadenas J, Mamsen LS, Wakimoto Y, Kristensen SG, Pors SE, Andersen CY
Reprod Biomed Online 2021 Jul;43(1):26-32. Epub 2021 Mar 16 doi: 10.1016/j.rbmo.2021.03.007. PMID: 34006484
Nishimura K, Dioguardi E, Nishio S, Villa A, Han L, Matsuda T, Jovine L
Nat Commun 2019 Jul 12;10(1):3086. doi: 10.1038/s41467-019-10931-5. PMID: 31300655Free PMC Article
Yuan P, Li R, Li D, Zheng L, Ou S, Zhao H, Zhang Q, Wang W
J Assist Reprod Genet 2019 Apr;36(4):741-747. Epub 2019 Feb 18 doi: 10.1007/s10815-019-01404-1. PMID: 30778819Free 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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