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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
Lower risk for Down syndrome associated with longer oral contraceptive use: a case-control study of women of advanced maternal age presenting for prenatal diagnosis.
Nagy GR, Győrffy B, Nagy B, Rigó J Jr
Contraception 2013 Apr;87(4):455-8. Epub 2012 Oct 4 doi: 10.1016/j.contraception.2012.08.040. PMID: 23040130
The role of oocyte maturity in the treatment of infertility because of teratozoospermia and normozoospermia with gamete intrafallopian transfer.
van der Merwe JP, Kruger TF, Swart Y, Lombard CJ
Fertil Steril 1992 Sep;58(3):581-6. doi: 10.1016/s0015-0282(16)55267-4. PMID: 1521655

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
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
Defective oogenesis in mice with pristane-induced model of systemic lupus.
Delimitreva SM, Boneva GV, Chakarova IV, Hadzhinesheva VP, Zhivkova RS, Markova MD, Nikolova VP, Kolarov AI, Mladenov NJ, Bradyanova SL, Tchorbanov AI
J Reprod Immunol 2021 Nov;148:103370. Epub 2021 Sep 2 doi: 10.1016/j.jri.2021.103370. PMID: 34492566
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
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

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

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
Embryological, clinical and ultrastructural study of human oocytes presenting indented zona pellucida.
Sousa M, Teixeira da Silva J, Silva J, Cunha M, Viana P, Oliveira E, Sá R, Soares C, Oliveira C, Barros A
Zygote 2015 Feb;23(1):145-57. Epub 2013 Sep 2 doi: 10.1017/S0967199413000403. PMID: 23992046
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
Clinical, endocrinological and biochemical effects of zinc deficiency.
Prasad AS
Clin Endocrinol Metab 1985 Aug;14(3):567-89. doi: 10.1016/s0300-595x(85)80007-4. PMID: 3905080
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
Obstetric, neonatal and child development outcomes following assisted hatching treatment: a retrospective cohort study.
Shats M, Fenchel D, Katz G, Haas J, Machtinger R, Gat I, Orvieto R, Kedem A
Gynecol Endocrinol 2021 Jan;37(1):41-45. Epub 2020 Apr 27 doi: 10.1080/09513590.2020.1756248. PMID: 32338095
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
The effect of human sperm chromatin maturity on ICSI outcomes.
Gill K, Rosiak A, Gaczarzewicz D, Jakubik J, Kurzawa R, Kazienko A, Rymaszewska A, Laszczynska M, Grochans E, Piasecka M
Hum Cell 2018 Jul;31(3):220-231. Epub 2018 Mar 29 doi: 10.1007/s13577-018-0203-4. PMID: 29594950
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
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
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
The potential significance of binovular follicles and binucleate giant oocytes for the development of genetic abnormalities.
Rosenbusch B
J Genet 2012;91(3):397-404. doi: 10.1007/s12041-012-0195-x. PMID: 23271027
Clinical, endocrinological and biochemical effects of zinc deficiency.
Prasad AS
Clin Endocrinol Metab 1985 Aug;14(3):567-89. doi: 10.1016/s0300-595x(85)80007-4. PMID: 3905080

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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