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Oocyte maturation defect 8(OOMD8; OZEMA8)

MedGen UID:
1776094
•Concept ID:
C5436597
•
Disease or Syndrome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 8
 
Gene (location): BTG4 (11q23.1)
 
Monarch Initiative: MONDO:0033564
OMIM®: 619009

Definition

Oocyte/zygote/embryo maturation arrest-8 (OZEMA8) is characterized by female infertility due to failure of the fertilized ovum to undergo zygotic cleavage (Zheng et al., 2020). 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
Abnormality of the menstrual cycle
MedGen UID:
893088
•Concept ID:
C4025888
•
Finding
An abnormality of the ovulation cycle.
See: Feature record | Search on this feature
Zygotic cleavage failure
MedGen UID:
1741839
•Concept ID:
C5436598
•
Cell or Molecular Dysfunction
Failure of a fertilized oocyte to undergo the first round of cell division.
See: Feature record | Search on this feature
Abnormal circulating estrogen level
MedGen UID:
1369064
•Concept ID:
C4476605
•
Finding
A deviation from normal concentration of the hormone estrogen in the blood circulation.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

A cohort study on IVF outcomes in infertile endometriosis patients: the effects of rapamycin treatment.
Fan J, Chen C, Zhong Y
Reprod Biomed Online 2024 Jan;48(1):103319. Epub 2023 Jul 29 doi: 10.1016/j.rbmo.2023.103319. PMID: 37914557
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
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

Oocyte in-vitro maturation primed with letrozole-HCG versus FSH-HCG in women with oocyte maturation abnormalities: a retrospective study.
Hatirnaz S, Hatirnaz E, Urkmez SS, Calıskan CS, Celik S, Hatirnaz K, Cao M, Tan SL, Dahan MH
Reprod Biomed Online 2024 Mar;48(3):103620. Epub 2023 Oct 14 doi: 10.1016/j.rbmo.2023.103620. PMID: 38194886
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
An update on primary ovarian insufficiency.
Jin M, Yu Y, Huang H
Sci China Life Sci 2012 Aug;55(8):677-86. Epub 2012 Aug 30 doi: 10.1007/s11427-012-4355-2. PMID: 22932883
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
Frequency and distribution of aneuploidy in human female gametes.
Pellestor F
Hum Genet 1991 Jan;86(3):283-8. doi: 10.1007/BF00202410. PMID: 1997383

Diagnosis

Novel PATL2 variants cause female infertility with oocyte maturation defect.
Hu HY, Zhang GH, Deng WF, Wei TY, Feng ZK, Li CX, Li SJ, Liu JE, Tian YP
J Assist Reprod Genet 2024 Aug;41(8):1965-1976. Epub 2024 Jul 2 doi: 10.1007/s10815-024-03150-5. PMID: 38954294Free 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
Prolonged ovarian storage of mature Drosophila oocytes dramatically increases meiotic spindle instability.
Greenblatt EJ, Obniski R, Mical C, Spradling AC
Elife 2019 Nov 22;8 doi: 10.7554/eLife.49455. PMID: 31755866Free PMC Article
Non-syndromic monogenic female infertility.
Guerri G, Maniscalchi T, Barati S, Gerli S, Di Renzo GC, Della Morte C, Marceddu G, Casadei A, Laganà AS, Sturla D, Ghezzi F, Garzon S, Unfer V, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):68-74. doi: 10.23750/abm.v90i10-S.8763. PMID: 31577258Free PMC Article
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

Therapy

Oocyte in-vitro maturation primed with letrozole-HCG versus FSH-HCG in women with oocyte maturation abnormalities: a retrospective study.
Hatirnaz S, Hatirnaz E, Urkmez SS, Calıskan CS, Celik S, Hatirnaz K, Cao M, Tan SL, Dahan MH
Reprod Biomed Online 2024 Mar;48(3):103620. Epub 2023 Oct 14 doi: 10.1016/j.rbmo.2023.103620. PMID: 38194886
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
Effect of rescuing donated immature human oocytes derived after FSH/hCG stimulation following in vitro culture with or without Follicular Fluid Meiosis Activating Sterol (FF-MAS)--an embryo chromosomal and morphological analysis.
Lundin K, Ziebe S, Bergh C, Loft A, Selleskog U, Nilsson L, Grøndahl C; Joan-Carles Arce for the CEMAS I Study Group
J Assist Reprod Genet 2007 Feb-Mar;24(2-3):87-90. Epub 2007 Jan 10 doi: 10.1007/s10815-006-9074-9. PMID: 17216347Free PMC Article
Experimental and clinical studies on the reproductive toxicology of 2,3,7,8-tetrachlorodibenzo-p-dioxin.
Silbergeld EK, Mattison DR
Am J Ind Med 1987;11(2):131-44. doi: 10.1002/ajim.4700110203. PMID: 3548340
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

Prognosis

Novel PATL2 variants cause female infertility with oocyte maturation defect.
Hu HY, Zhang GH, Deng WF, Wei TY, Feng ZK, Li CX, Li SJ, Liu JE, Tian YP
J Assist Reprod Genet 2024 Aug;41(8):1965-1976. Epub 2024 Jul 2 doi: 10.1007/s10815-024-03150-5. PMID: 38954294Free 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
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
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

Clinical prediction guides

Novel PATL2 variants cause female infertility with oocyte maturation defect.
Hu HY, Zhang GH, Deng WF, Wei TY, Feng ZK, Li CX, Li SJ, Liu JE, Tian YP
J Assist Reprod Genet 2024 Aug;41(8):1965-1976. Epub 2024 Jul 2 doi: 10.1007/s10815-024-03150-5. PMID: 38954294Free 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
An update on primary ovarian insufficiency.
Jin M, Yu Y, Huang H
Sci China Life Sci 2012 Aug;55(8):677-86. Epub 2012 Aug 30 doi: 10.1007/s11427-012-4355-2. PMID: 22932883
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
Frequency and distribution of aneuploidy in human female gametes.
Pellestor F
Hum Genet 1991 Jan;86(3):283-8. doi: 10.1007/BF00202410. PMID: 1997383

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
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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