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Oocyte maturation defect 10(OOMD10; OZEMA10)

MedGen UID:
1766720
•Concept ID:
C5436938
•
Disease or Syndrome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 10
 
Gene (location): REC114 (15q24.1)
 
Monarch Initiative: MONDO:0030925
OMIM®: 619176

Definition

Oocyte/zygote/embryo maturation arrest-10 (OZEMA10) is characterized by high rates of abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus. Morphologically normal zygotes often undergo early embryonic arrest, and surviving embryos fail to establish a successful pregnancy after implantation (Wang 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.
See: Feature record | Search on this feature
Repeated implantation failure
MedGen UID:
1779076
•Concept ID:
C5539773
•
Finding
Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.
See: Feature record | Search on this feature
Formation of multiple pronuclei during fertilization
MedGen UID:
1781576
•Concept ID:
C5539859
•
Cell or Molecular Dysfunction
Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Immunoregulation of follicular renewal, selection, POF, and menopause in vivo, vs. neo-oogenesis in vitro, POF and ovarian infertility treatment, and a clinical trial.
Bukovsky A, Caudle MR
Reprod Biol Endocrinol 2012 Nov 23;10:97. doi: 10.1186/1477-7827-10-97. PMID: 23176151Free PMC Article
Treatment of severe male infertility by micromanipulation-assisted fertilization: an update.
Tesarik J, Mendoza C
Front Biosci 2007 Jan 1;12:105-14. doi: 10.2741/2051. PMID: 17127286
Treatment strategies in assisted reproduction for women of advanced maternal age.
Howles CM, Kim CH, Elder K
Int Surg 2006 Sep-Oct;91(5 Suppl):S37-54. PMID: 17436604

Recent clinical studies

Etiology

TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations.
Ebru H, Dahan MH, Sezer O, Başbuğ A, Kaan H, Güngör ND, Baltacı V, Tan SL, Şafak H
Reprod Biomed Online 2023 Nov;47(5):103257. Epub 2023 Jun 26 doi: 10.1016/j.rbmo.2023.06.012. PMID: 37672871
Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Association of Insulin Resistance and Elevated Androgen Levels with Polycystic Ovarian Syndrome (PCOS): A Review of Literature.
Xu Y, Qiao J
J Healthc Eng 2022;2022:9240569. Epub 2022 Mar 21 doi: 10.1155/2022/9240569. PMID: 35356614Free PMC Article
NSD1-deposited H3K36me2 directs de novo methylation in the mouse male germline and counteracts Polycomb-associated silencing.
Shirane K, Miura F, Ito T, Lorincz MC
Nat Genet 2020 Oct;52(10):1088-1098. Epub 2020 Sep 14 doi: 10.1038/s41588-020-0689-z. PMID: 32929285
Pregnancies in women with Turner's syndrome.
Hovatta O
Ann Med 1999 Apr;31(2):106-10. PMID: 10344582

Diagnosis

Non-syndromic monogenic female infertility.
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
Genetics of human female infertility†.
Yatsenko SA, Rajkovic A
Biol Reprod 2019 Sep 1;101(3):549-566. doi: 10.1093/biolre/ioz084. PMID: 31077289Free PMC Article
Oocyte activation deficiency: a role for an oocyte contribution?
Yeste M, Jones C, Amdani SN, Patel S, Coward K
Hum Reprod Update 2016 Jan-Feb;22(1):23-47. Epub 2015 Sep 7 doi: 10.1093/humupd/dmv040. PMID: 26346057
Bisphenol-A and human oocyte maturation in vitro.
Machtinger R, Combelles CM, Missmer SA, Correia KF, Williams P, Hauser R, Racowsky C
Hum Reprod 2013 Oct;28(10):2735-45. Epub 2013 Jul 30 doi: 10.1093/humrep/det312. PMID: 23904465Free PMC Article
Immunoregulation of follicular renewal, selection, POF, and menopause in vivo, vs. neo-oogenesis in vitro, POF and ovarian infertility treatment, and a clinical trial.
Bukovsky A, Caudle MR
Reprod Biol Endocrinol 2012 Nov 23;10:97. doi: 10.1186/1477-7827-10-97. PMID: 23176151Free PMC Article

Therapy

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Growth hormone replacement improved oocyte quality in a patient with hypopituitarism: A study of follicular fluid.
Scheffler F, Cabry R, Soyez M, Copin H, Ben Khalifa M, Devaux A, Desailloud R
Ann Endocrinol (Paris) 2021 Dec;82(6):590-596. Epub 2021 Jun 27 doi: 10.1016/j.ando.2021.05.003. PMID: 34186075
Oocyte Retrieval during Laparoscopic Vaginoplasty to Reduce Invasiveness in the Treatment of Mayer-Rokitansky-Küster-Hauser Syndrome.
Candiani M, Vanni VS, Papaleo E, Delprato D, Tandoi I, Gervasio V, Parma M, Corti L, Girardelli S, Fedele L
J Minim Invasive Gynecol 2020 Jan;27(1):74-79. Epub 2019 May 23 doi: 10.1016/j.jmig.2019.02.023. PMID: 31129299
Bisphenol-A and human oocyte maturation in vitro.
Machtinger R, Combelles CM, Missmer SA, Correia KF, Williams P, Hauser R, Racowsky C
Hum Reprod 2013 Oct;28(10):2735-45. Epub 2013 Jul 30 doi: 10.1093/humrep/det312. PMID: 23904465Free PMC Article
Immunoregulation of follicular renewal, selection, POF, and menopause in vivo, vs. neo-oogenesis in vitro, POF and ovarian infertility treatment, and a clinical trial.
Bukovsky A, Caudle MR
Reprod Biol Endocrinol 2012 Nov 23;10:97. doi: 10.1186/1477-7827-10-97. PMID: 23176151Free PMC Article

Prognosis

Oocyte Retrieval during Laparoscopic Vaginoplasty to Reduce Invasiveness in the Treatment of Mayer-Rokitansky-Küster-Hauser Syndrome.
Candiani M, Vanni VS, Papaleo E, Delprato D, Tandoi I, Gervasio V, Parma M, Corti L, Girardelli S, Fedele L
J Minim Invasive Gynecol 2020 Jan;27(1):74-79. Epub 2019 May 23 doi: 10.1016/j.jmig.2019.02.023. PMID: 31129299
Novel phospholipase C zeta 1 mutations associated with fertilization failures after ICSI.
Torra-Massana M, Cornet-Bartolomé D, Barragán M, Durban M, Ferrer-Vaquer A, Zambelli F, Rodriguez A, Oliva R, Vassena R
Hum Reprod 2019 Aug 1;34(8):1494-1504. doi: 10.1093/humrep/dez094. PMID: 31347677
Pregnancy loss in pregnancies conceived after in vitro oocyte maturation, conventional in vitro fertilization, and intracytoplasmic sperm injection.
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
Treatment strategies in assisted reproduction for women of advanced maternal age.
Howles CM, Kim CH, Elder K
Int Surg 2006 Sep-Oct;91(5 Suppl):S37-54. PMID: 17436604
Effects of a behavioural rhythm on conception probability and pregnancy outcome.
Boklage CE
Hum Reprod 1996 Oct;11(10):2276-84. doi: 10.1093/oxfordjournals.humrep.a019089. PMID: 9053399

Clinical prediction guides

Diverse impacts of female chromosomal polymorphisms on assisted reproduction outcomes: a retrospective cohort study.
Lu Y, Tian T, Chen L, Yan L, Chang L, Qiao J
BMC Pregnancy Childbirth 2024 Apr 27;24(1):331. doi: 10.1186/s12884-024-06532-w. PMID: 38678230Free PMC Article
Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Oocyte Retrieval during Laparoscopic Vaginoplasty to Reduce Invasiveness in the Treatment of Mayer-Rokitansky-Küster-Hauser Syndrome.
Candiani M, Vanni VS, Papaleo E, Delprato D, Tandoi I, Gervasio V, Parma M, Corti L, Girardelli S, Fedele L
J Minim Invasive Gynecol 2020 Jan;27(1):74-79. Epub 2019 May 23 doi: 10.1016/j.jmig.2019.02.023. PMID: 31129299
Immunoregulation of follicular renewal, selection, POF, and menopause in vivo, vs. neo-oogenesis in vitro, POF and ovarian infertility treatment, and a clinical trial.
Bukovsky A, Caudle MR
Reprod Biol Endocrinol 2012 Nov 23;10:97. doi: 10.1186/1477-7827-10-97. PMID: 23176151Free PMC Article
Treatment strategies in assisted reproduction for women of advanced maternal age.
Howles CM, Kim CH, Elder K
Int Surg 2006 Sep-Oct;91(5 Suppl):S37-54. PMID: 17436604

Recent systematic reviews

Indirect markers of oocyte quality in patients with ovarian endometriosis undergoing IVF/ICSI: a systematic review and meta-analysis.
Gayete-Lafuente S, Vilà Famada A, Albayrak N, Espinós Gómez JJ, Checa Vizcaíno MÁ, Moreno-Sepulveda J
Reprod Biomed Online 2024 Sep;49(3):104075. Epub 2024 Apr 20 doi: 10.1016/j.rbmo.2024.104075. PMID: 38943812
Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article

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