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Oocyte maturation defect 6(OOMD6; OZEMA6)

MedGen UID:
1682649
•Concept ID:
C5193047
•
Disease or Syndrome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 6
 
Gene (location): ZP2 (16p12.3-12.2)
 
Monarch Initiative: MONDO:0032696
OMIM®: 618353

Definition

Oocyte/zygote/embryo maturation arrest-6 (OZEMA6) is characterized by primary infertility due to defective sperm-binding to an abnormally thin zona pellucida (ZP) in patient oocytes. Successful pregnancy may be achieved by intracytoplasmic sperm injection in these patients (Dai et al., 2019). 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
Thin zona pellucida
MedGen UID:
1700315
•Concept ID:
C5209250
•
Finding
Reduced thickness of the zona pellucida.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Pathogenic variants of TUBB8 cause oocyte spindle defects by disrupting with EB1/CAKP5 interactions and potential treatment targeting microtubule acetylation through HDAC6 inhibition.
Luo H, Chen J, Li C, Wu T, Yin S, Yang G, Wang Y, Guo Z, Hu S, He Y, Wang Y, Chen Y, Su Y, Miao C, Qian Y, Feng R
Clin Transl Med 2025 Jan;15(1):e70193. doi: 10.1002/ctm2.70193. PMID: 39834092Free PMC Article
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

Recent clinical studies

Etiology

High-Salt Diet Causes Defective Oocyte Maturation and Embryonic Development to Impair Female Fertility in Mice.
He Q, Zheng Q, Liu Y, Miao Y, Zhang Y, Xu T, Bai S, Zhao X, Yang X, Xu Z
Mol Nutr Food Res 2023 Dec;67(23):e2300401. Epub 2023 Oct 20 doi: 10.1002/mnfr.202300401. PMID: 37863820
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
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
Ovarian hyperstimulation syndrome prevention strategies: in vitro maturation.
Huang JY, Chian RC, Tan SL
Semin Reprod Med 2010 Nov;28(6):519-31. doi: 10.1055/s-0030-1265680. PMID: 21157982
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
A brief insight into the etiology, genetics, and immunology of polycystic ovarian syndrome (PCOS).
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
Total fertilization failure and molecular abnormalities in metaphase II oocytes.
Gasca S, Reyftmann L, Pellestor F, Rème T, Assou S, Anahory T, Dechaud H, Klein B, De Vos J, Hamamah S
Reprod Biomed Online 2008 Dec;17(6):772-81. doi: 10.1016/s1472-6483(10)60404-x. PMID: 19079960
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
Laboratory aspects of assisted reproduction.
Yeung WS, Ng EH
Hong Kong Med J 2000 Jun;6(2):163-8. PMID: 10895139

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
A brief insight into the etiology, genetics, and immunology of polycystic ovarian syndrome (PCOS).
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
Fertility issues following hematopoietic stem cell transplantation.
Tichelli A, Rovó A
Expert Rev Hematol 2013 Aug;6(4):375-88. doi: 10.1586/17474086.2013.816507. PMID: 23991924
Fertility preservation in patients with non-oncological conditions.
Gidoni Y, Holzer H, Tulandi T, Tan SL
Reprod Biomed Online 2008 Jun;16(6):792-800. doi: 10.1016/s1472-6483(10)60144-7. PMID: 18549688
Clinical relevance of sperm DNA damage in assisted reproduction.
Tarozzi N, Bizzaro D, Flamigni C, Borini A
Reprod Biomed Online 2007 Jun;14(6):746-57. doi: 10.1016/s1472-6483(10)60678-5. PMID: 17579991

Prognosis

Nomogram to predict the probability of clinical pregnancy in women with poor ovarian response undergoing in vitro fertilization/ intracytoplasmic sperm injection cycles.
Zhu S, Jiang W, Sun Y, Chen L, Li R, Chen X, Zheng B
Arch Gynecol Obstet 2024 Sep;310(3):1697-1707. Epub 2024 Jun 24 doi: 10.1007/s00404-024-07598-9. PMID: 38913207
Fertility preservation and PGT-M in women with familial adenomatous polyposis-associated desmoid tumours.
Fouks Y, Sheiman V, Goaz S, Malcov M, Hasson Y, Azem F
Reprod Biomed Online 2021 Oct;43(4):637-644. Epub 2021 Jul 22 doi: 10.1016/j.rbmo.2021.07.010. PMID: 34429254
Novel zona pellucida gene variants identified in patients with oocyte anomalies.
Yang P, Luan X, Peng Y, Chen T, Su S, Zhang C, Wang Z, Cheng L, Zhang X, Wang Y, Chen ZJ, Zhao H
Fertil Steril 2017 Jun;107(6):1364-1369. doi: 10.1016/j.fertnstert.2017.03.029. PMID: 28577617
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
Presence of N-cadherin transcripts in mature spermatozoa.
Goodwin LO, Karabinus DS, Pergolizzi RG
Mol Hum Reprod 2000 Jun;6(6):487-97. doi: 10.1093/molehr/6.6.487. PMID: 10825364

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
High-Salt Diet Causes Defective Oocyte Maturation and Embryonic Development to Impair Female Fertility in Mice.
He Q, Zheng Q, Liu Y, Miao Y, Zhang Y, Xu T, Bai S, Zhao X, Yang X, Xu Z
Mol Nutr Food Res 2023 Dec;67(23):e2300401. Epub 2023 Oct 20 doi: 10.1002/mnfr.202300401. PMID: 37863820
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
Fertility issues following hematopoietic stem cell transplantation.
Tichelli A, Rovó A
Expert Rev Hematol 2013 Aug;6(4):375-88. doi: 10.1586/17474086.2013.816507. PMID: 23991924
Chromosome cohesion decreases in human eggs with advanced maternal age.
Duncan FE, Hornick JE, Lampson MA, Schultz RM, Shea LD, Woodruff TK
Aging Cell 2012 Dec;11(6):1121-4. Epub 2012 Aug 27 doi: 10.1111/j.1474-9726.2012.00866.x. PMID: 22823533Free PMC Article

Recent systematic reviews

Comparative efficacy and safety of metformin, anti-obesity agents, and myoinositol in improving IVF/ICSI outcomes and reducing ovarian hyperstimulation syndrome in women with polycystic ovary syndrome: a systematic review and network meta-analysis.
Lin L, Chen G, Qiao X, Chen Y, Deng H, Xu L
J Ovarian Res 2024 Dec 19;17(1):249. doi: 10.1186/s13048-024-01576-0. PMID: 39702393Free 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
A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.
Volozonoka L, Miskova A, Kornejeva L, Kempa I, Bargatina V, Gailite L
Reproduction 2022 Apr 22;163(6):351-363. doi: 10.1530/REP-21-0486. PMID: 35451369Free PMC Article
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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