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Oocyte maturation defect 3(OOMD3; OZEMA3)

MedGen UID:
1617317
•Concept ID:
C4540205
•
Disease or Syndrome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 3
 
Gene (location): ZP3 (7q11.23)
 
Monarch Initiative: MONDO:0021574
OMIM®: 617712

Definition

Oocyte/zygote/embryo maturation arrest-3 (OZEMA3) is characterized by infertility, caused by absence of the zona pellucida that results in degeneration of oocytes and 'empty follicle syndrome' on in vitro fertilization procedures (Chen et al., 2017). 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

Professional guidelines

PubMed

Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
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 option for sperm- or oocyte-related fertilization failure: assisted oocyte activation following diagnostic heterologous ICSI.
Heindryckx B, Van der Elst J, De Sutter P, Dhont M
Hum Reprod 2005 Aug;20(8):2237-41. Epub 2005 Apr 14 doi: 10.1093/humrep/dei029. PMID: 15831504

Recent clinical studies

Etiology

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
Effects of n-3 PUFA supplementation on oocyte in vitro maturation in mice with polycystic ovary syndrome.
Ma R, Wang S, Xue M, Zhang H, He Z, Jueraitetibaike K, Ge X, Chen L, Yao B
J Ovarian Res 2023 Apr 29;16(1):87. doi: 10.1186/s13048-023-01162-w. PMID: 37120599Free PMC Article
The rate of oocytes with granular cytoplasm is higher in women with endometrioma in ICSI cycles.
Bilgic BE, Kurek Eken M, Ayla Ş, Kose A, Kutlu T, İlhan G
J Obstet Gynaecol 2022 Apr;42(3):467-471. Epub 2021 Jun 24 doi: 10.1080/01443615.2021.1916803. PMID: 34165007
Mitochondria: emerging therapeutic strategies for oocyte rescue.
Jiang Z, Shen H
Reprod Sci 2022 Mar;29(3):711-722. Epub 2021 Mar 12 doi: 10.1007/s43032-021-00523-4. PMID: 33712995
Chromosomal abnormalities in oocytes.
Plachot M
Mol Cell Endocrinol 2001 Oct 22;183 Suppl 1:S59-63. doi: 10.1016/s0303-7207(01)00577-9. PMID: 11576735

Diagnosis

Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
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
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
Sirtuins in gamete biology and reproductive physiology: emerging roles and therapeutic potential in female and male infertility.
Tatone C, Di Emidio G, Barbonetti A, Carta G, Luciano AM, Falone S, Amicarelli F
Hum Reprod Update 2018 May 1;24(3):267-289. doi: 10.1093/humupd/dmy003. PMID: 29447380
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

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
Glycine ameliorates MBP-induced meiotic abnormalities and apoptosis by regulating mitochondrial-endoplasmic reticulum interactions in porcine oocytes.
Gao L, Zhang C, Yu S, Liu S, Wang G, Lan H, Zheng X, Li S
Environ Pollut 2022 Sep 15;309:119756. Epub 2022 Jul 12 doi: 10.1016/j.envpol.2022.119756. PMID: 35839969
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
Role of oxidative stress in female reproduction.
Agarwal A, Gupta S, Sharma RK
Reprod Biol Endocrinol 2005 Jul 14;3:28. doi: 10.1186/1477-7827-3-28. PMID: 16018814Free PMC Article
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

Prognosis

The role of spermatozoa-zona pellucida interaction in selecting fertilization-competent spermatozoa in humans.
Leung ETY, Lee BKM, Lee CL, Tian X, Lam KKW, Li RHW, Ng EHY, Yeung WSB, Ou JP, Chiu PCN
Front Endocrinol (Lausanne) 2023;14:1135973. Epub 2023 Mar 20 doi: 10.3389/fendo.2023.1135973. PMID: 37020592Free PMC Article
Mutation analysis of tubulin beta 8 class VIII in infertile females with oocyte or embryonic defects.
Yang P, Yin C, Li M, Ma S, Cao Y, Zhang C, Chen T, Zhao H
Clin Genet 2021 Jan;99(1):208-214. Epub 2020 Oct 19 doi: 10.1111/cge.13855. PMID: 33009822
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
Unique patient issues: early interventions and management.
Combelles C
Semin Reprod Med 2012 Jun;30(3):243-52. Epub 2012 May 14 doi: 10.1055/s-0032-1311527. PMID: 22585636
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

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
Transcriptomic profile of GLCs of PCOS women highlights metabolic dysregulation as a plausible contributor to PCOS pathophysiology.
Patil K, Naigaonkar A, Hinduja I, Mukherjee S
Reprod Biol 2023 Sep;23(3):100787. Epub 2023 Jul 17 doi: 10.1016/j.repbio.2023.100787. PMID: 37467532
The role of spermatozoa-zona pellucida interaction in selecting fertilization-competent spermatozoa in humans.
Leung ETY, Lee BKM, Lee CL, Tian X, Lam KKW, Li RHW, Ng EHY, Yeung WSB, Ou JP, Chiu PCN
Front Endocrinol (Lausanne) 2023;14:1135973. Epub 2023 Mar 20 doi: 10.3389/fendo.2023.1135973. PMID: 37020592Free PMC Article
The rate of oocytes with granular cytoplasm is higher in women with endometrioma in ICSI cycles.
Bilgic BE, Kurek Eken M, Ayla Ş, Kose A, Kutlu T, İlhan G
J Obstet Gynaecol 2022 Apr;42(3):467-471. Epub 2021 Jun 24 doi: 10.1080/01443615.2021.1916803. PMID: 34165007
Sirtuins in gamete biology and reproductive physiology: emerging roles and therapeutic potential in female and male infertility.
Tatone C, Di Emidio G, Barbonetti A, Carta G, Luciano AM, Falone S, Amicarelli F
Hum Reprod Update 2018 May 1;24(3):267-289. doi: 10.1093/humupd/dmy003. PMID: 29447380

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
Pretreatment of Dienogest for Women with Endometriosis in in vitro Fertilization: A Systematic Review and Meta-Analysis.
Li X, Lin J, Zhang L, Liu Y
Gynecol Obstet Invest 2023;88(3):135-142. Epub 2023 Feb 3 doi: 10.1159/000529400. PMID: 36739867
Unilateral pleural effusion as the sole clinical presentation of severe ovarian hyperstimulation syndrome: a systematic review.
Irani M, Robles A, Gunnala V, Chung P, Rosenwaks Z
Gynecol Endocrinol 2018 Feb;34(2):92-99. Epub 2017 Oct 24 doi: 10.1080/09513590.2017.1390738. PMID: 29063807

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