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Oocyte maturation defect 14(OZEMA14)

MedGen UID:
1840962
•Concept ID:
C5830326
•
Disease or Syndrome
Synonyms: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14; OZEMA14
 
Gene (location): CDC20 (1p34.2)
 
Monarch Initiative: MONDO:0859521
OMIM®: 620276

Definition

Oocyte/zygote/embryo maturation arrest-14 (OZEMA14) is characterized by female infertility due to oocyte maturation arrest, fertilization failure, and/or early embryonic arrest. The rare fertilized embryos that are transferred to the uterus fail to establish pregnancy after transfer (Zhao et al., 2020, Zhao et al., 2021, Huang et al., 2021, Xu et al., 2021). 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
Oocyte maturation arrest
MedGen UID:
1838865
•Concept ID:
C5826764
•
Cell or Molecular Dysfunction
Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes.
See: Feature record | Search on this feature

Professional guidelines

PubMed

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

Effect of GnRH agonist trigger with or without low-dose hCG on reproductive outcomes for PCOS women with freeze-all strategy: a propensity score matching study.
Wang Q, Wan Q, Li T, Wang X, Hu Y, Zhong Z, Pu K, Ding Y, Tang X
Arch Gynecol Obstet 2024 Feb;309(2):679-688. Epub 2023 Nov 30 doi: 10.1007/s00404-023-07285-1. PMID: 38032411
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
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z
Clin Epigenetics 2022 Mar 16;14(1):41. doi: 10.1186/s13148-022-01259-x. PMID: 35296332Free PMC Article
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

Diagnosis

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
Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.
Zeng Y, Chen B, Sun Y, Yang A, Wu L, Li B, Mu J, Zhang Z, Wang W, Zhou Z, Dong J, Liu R, Luo Y, Sun X, Sang Q, Kuang Y, Wang L
Hum Mol Genet 2023 Jul 4;32(14):2326-2334. doi: 10.1093/hmg/ddad070. PMID: 37133443
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
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z
Clin Epigenetics 2022 Mar 16;14(1):41. doi: 10.1186/s13148-022-01259-x. PMID: 35296332Free PMC Article
Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome.
Greco E, Scarselli F, Minasi MG, Casciani V, Zavaglia D, Dente D, Tesarik J, Franco G
Hum Reprod 2013 May;28(5):1155-60. Epub 2013 Mar 14 doi: 10.1093/humrep/det046. PMID: 23493114

Therapy

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
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
Metabolism and karyotype analysis of oocytes from patients with polycystic ovary syndrome.
Harris SE, Maruthini D, Tang T, Balen AH, Picton HM
Hum Reprod 2010 Sep;25(9):2305-15. Epub 2010 Jul 21 doi: 10.1093/humrep/deq181. PMID: 20659909
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

Prognosis

Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.
Zeng Y, Chen B, Sun Y, Yang A, Wu L, Li B, Mu J, Zhang Z, Wang W, Zhou Z, Dong J, Liu R, Luo Y, Sun X, Sang Q, Kuang Y, Wang L
Hum Mol Genet 2023 Jul 4;32(14):2326-2334. doi: 10.1093/hmg/ddad070. PMID: 37133443
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
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
An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K.
Chillarón J, Estévez R, Samarzija I, Waldegger S, Testar X, Lang F, Zorzano A, Busch A, Palacín M
J Biol Chem 1997 Apr 4;272(14):9543-9. doi: 10.1074/jbc.272.14.9543. PMID: 9083097

Clinical prediction guides

Effect of GnRH agonist trigger with or without low-dose hCG on reproductive outcomes for PCOS women with freeze-all strategy: a propensity score matching study.
Wang Q, Wan Q, Li T, Wang X, Hu Y, Zhong Z, Pu K, Ding Y, Tang X
Arch Gynecol Obstet 2024 Feb;309(2):679-688. Epub 2023 Nov 30 doi: 10.1007/s00404-023-07285-1. PMID: 38032411
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
Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.
Zeng Y, Chen B, Sun Y, Yang A, Wu L, Li B, Mu J, Zhang Z, Wang W, Zhou Z, Dong J, Liu R, Luo Y, Sun X, Sang Q, Kuang Y, Wang L
Hum Mol Genet 2023 Jul 4;32(14):2326-2334. doi: 10.1093/hmg/ddad070. PMID: 37133443
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z
Clin Epigenetics 2022 Mar 16;14(1):41. doi: 10.1186/s13148-022-01259-x. PMID: 35296332Free 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

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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