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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

Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome.
Vanni VS, Alteri A, De Santis L, Cermisoni GC, Rabellotti E, Delprato D, Parma M, Papaleo E, Fedele L, Candiani M
J Vis Exp 2022 May 10;(183) doi: 10.3791/63634. PMID: 35635474
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
Pregnancy and neonatal outcomes of small follicle-derived blastocyst transfer in modified natural cycle in vitro fertilization.
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
Cytoplasmic transfer in oocytes: biochemical aspects.
Levy R, Elder K, Ménézo Y
Hum Reprod Update 2004 May-Jun;10(3):241-50. doi: 10.1093/humupd/dmh016. PMID: 15140871
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
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
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
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

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
Pregnancy and neonatal outcomes of small follicle-derived blastocyst transfer in modified natural cycle in vitro fertilization.
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
The protective role of melatonin in porcine oocyte meiotic failure caused by the exposure to benzo(a)pyrene.
Miao Y, Zhou C, Bai Q, Cui Z, ShiYang X, Lu Y, Zhang M, Dai X, Xiong B
Hum Reprod 2018 Jan 1;33(1):116-127. doi: 10.1093/humrep/dex331. PMID: 29112712
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

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
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
Embryo score is a better predictor of pregnancy than the number of transferred embryos or female age.
Terriou P, Sapin C, Giorgetti C, Hans E, Spach JL, Roulier R
Fertil Steril 2001 Mar;75(3):525-31. doi: 10.1016/s0015-0282(00)01741-6. PMID: 11239536
Sperm nuclear chromatin normality: relationship with sperm morphology, sperm-zona pellucida binding, and fertilization rates in vitro.
Liu DY, Baker HW
Fertil Steril 1992 Dec;58(6):1178-84. doi: 10.1016/s0015-0282(16)55566-6. PMID: 1281117

Clinical prediction guides

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
Long-term Hyperandrogenemia and/or Western-style Diet in Rhesus Macaque Females Impairs Preimplantation Embryogenesis.
Ravisankar S, Murphy MJ, Redmayne-Titley N, Davis B, Luo F, Takahashi D, Hennebold JD, Chavez SL
Endocrinology 2022 Apr 1;163(4) doi: 10.1210/endocr/bqac019. PMID: 35192701Free PMC Article
The protective role of melatonin in porcine oocyte meiotic failure caused by the exposure to benzo(a)pyrene.
Miao Y, Zhou C, Bai Q, Cui Z, ShiYang X, Lu Y, Zhang M, Dai X, Xiong B
Hum Reprod 2018 Jan 1;33(1):116-127. doi: 10.1093/humrep/dex331. PMID: 29112712
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

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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