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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

Recent clinical studies

Etiology

Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.
Rezaei M, Liang M, Yalcin Z, Martin JH, Kazemi P, Bareke E, Ge ZJ, Fardaei M, Benadiva C, Hemida R, Hassan A, Maher GJ, Abdalla E, Buckett W, Bolze PA, Sandhu I, Duman O, Agrawal S, Qian J, Vallian Broojeni J, Bhati L, Miron P, Allias F, Selim A, Fisher RA, Seckl MJ, Sauthier P, Touitou I, Tan SL, Majewski J, Taketo T, Slim R
J Clin Invest 2024 Nov 15;134(22) doi: 10.1172/JCI170669. PMID: 39545410Free 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
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
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
Neurotrophins and glial cell line-derived neurotrophic factor in the ovary: physiological and pathophysiological implications.
Chang HM, Wu HC, Sun ZG, Lian F, Leung PCK
Hum Reprod Update 2019 Mar 1;25(2):224-242. doi: 10.1093/humupd/dmy047. PMID: 30608586Free 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

Therapy

Impact of Bisphenol A and its alternatives on oocyte health: a scoping review.
Peters AE, Ford EA, Roman SD, Bromfield EG, Nixon B, Pringle KG, Sutherland JM
Hum Reprod Update 2024 Dec 1;30(6):653-691. doi: 10.1093/humupd/dmae025. PMID: 39277428Free 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
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
Oocyte dysmorphism and aneuploidy in meiotically mature human oocytes after ovarian stimulation.
Van Blerkom J, Henry G
Hum Reprod 1992 Mar;7(3):379-90. doi: 10.1093/oxfordjournals.humrep.a137655. PMID: 1587948

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
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
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

Clinical prediction guides

Impact of Bisphenol A and its alternatives on oocyte health: a scoping review.
Peters AE, Ford EA, Roman SD, Bromfield EG, Nixon B, Pringle KG, Sutherland JM
Hum Reprod Update 2024 Dec 1;30(6):653-691. doi: 10.1093/humupd/dmae025. PMID: 39277428Free 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
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
Estrogen receptor β controls MMP-19 expression in mouse ovaries during ovulation.
Nalvarte I, Töhönen V, Lindeberg M, Varshney M, Gustafsson JÅ, Inzunza J
Reproduction 2016 Mar;151(3):253-9. Epub 2015 Dec 23 doi: 10.1530/REP-15-0522. PMID: 26700939
A possible role for the 60-kD Ro autoantigen in a discard pathway for defective 5S rRNA precursors.
O'Brien CA, Wolin SL
Genes Dev 1994 Dec 1;8(23):2891-903. doi: 10.1101/gad.8.23.2891. PMID: 7995526

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
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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