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Female infertility due to fertilization defect

MedGen UID:
1843367
•Concept ID:
C5681140
•
Disease or Syndrome
Synonym: Rare female infertility due to oocyte maturation defect
 
Orphanet: ORPHA404469

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFemale infertility due to fertilization defect

Professional guidelines

PubMed

Evidence-based guideline: unexplained infertility†.
Guideline Group on Unexplained Infertility, Romualdi D, Ata B, Bhattacharya S, Bosch E, Costello M, Gersak K, Homburg R, Mincheva M, Norman RJ, Piltonen T, Dos Santos-Ribeiro S, Scicluna D, Somers S, Sunkara SK, Verhoeve HR, Le Clef N
Hum Reprod 2023 Oct 3;38(10):1881-1890. doi: 10.1093/humrep/dead150. PMID: 37599566Free PMC Article
Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Endometriosis-associated infertility: aspects of pathophysiological mechanisms and treatment options.
Tanbo T, Fedorcsak P
Acta Obstet Gynecol Scand 2017 Jun;96(6):659-667. Epub 2017 Jan 30 doi: 10.1111/aogs.13082. PMID: 27998009

Recent clinical studies

Etiology

Infertility: Evaluation and Management.
Phillips K, Olanrewaju RA, Omole F
Am Fam Physician 2023 Jun;107(6):623-630. PMID: 37327165
Defensins: defenders of human reproductive health.
Zhai YJ, Feng Y, Ma X, Ma F
Hum Reprod Update 2023 Jan 5;29(1):126-154. doi: 10.1093/humupd/dmac032. PMID: 36130055Free PMC Article
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Bisphenol A: an emerging threat to female fertility.
Pivonello C, Muscogiuri G, Nardone A, Garifalos F, Provvisiero DP, Verde N, de Angelis C, Conforti A, Piscopo M, Auriemma RS, Colao A, Pivonello R
Reprod Biol Endocrinol 2020 Mar 14;18(1):22. doi: 10.1186/s12958-019-0558-8. PMID: 32171313Free PMC Article
Obesity and female infertility: potential mediators of obesity's impact.
Broughton DE, Moley KH
Fertil Steril 2017 Apr;107(4):840-847. Epub 2017 Mar 11 doi: 10.1016/j.fertnstert.2017.01.017. PMID: 28292619

Diagnosis

Contribution of semen to early embryo development: fertilization and beyond.
Vallet-Buisan M, Mecca R, Jones C, Coward K, Yeste M
Hum Reprod Update 2023 Jul 5;29(4):395-433. doi: 10.1093/humupd/dmad006. PMID: 36882116
Polycystic ovarian syndrome and infertility: overview and insights of the putative treatments.
Collée J, Mawet M, Tebache L, Nisolle M, Brichant G
Gynecol Endocrinol 2021 Oct;37(10):869-874. Epub 2021 Aug 2 doi: 10.1080/09513590.2021.1958310. PMID: 34338572
Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
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

Therapy

Infertility: Evaluation and Management.
Phillips K, Olanrewaju RA, Omole F
Am Fam Physician 2023 Jun;107(6):623-630. PMID: 37327165
Polycystic ovarian syndrome and infertility: overview and insights of the putative treatments.
Collée J, Mawet M, Tebache L, Nisolle M, Brichant G
Gynecol Endocrinol 2021 Oct;37(10):869-874. Epub 2021 Aug 2 doi: 10.1080/09513590.2021.1958310. PMID: 34338572
Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Diet and fertility: a review.
Gaskins AJ, Chavarro JE
Am J Obstet Gynecol 2018 Apr;218(4):379-389. Epub 2017 Aug 24 doi: 10.1016/j.ajog.2017.08.010. PMID: 28844822Free PMC Article
Obesity and female infertility: potential mediators of obesity's impact.
Broughton DE, Moley KH
Fertil Steril 2017 Apr;107(4):840-847. Epub 2017 Mar 11 doi: 10.1016/j.fertnstert.2017.01.017. PMID: 28292619

Prognosis

Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use.
Viotti M, Victor AR, Barnes FL, Zouves CG, Besser AG, Grifo JA, Cheng EH, Lee MS, Horcajadas JA, Corti L, Fiorentino F, Spinella F, Minasi MG, Greco E, Munné S
Fertil Steril 2021 May;115(5):1212-1224. Epub 2021 Mar 6 doi: 10.1016/j.fertnstert.2020.11.041. PMID: 33685629
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Non-invasive prenatal testing in the context of IVF and PGT-A.
Kimelman D, Pavone ME
Best Pract Res Clin Obstet Gynaecol 2021 Jan;70:51-62. Epub 2020 Jul 15 doi: 10.1016/j.bpobgyn.2020.07.004. PMID: 32739290
To ICSI or Not to ICSI.
Palermo GD, Neri QV, Rosenwaks Z
Semin Reprod Med 2015 Mar;33(2):92-102. Epub 2015 Mar 3 doi: 10.1055/s-0035-1546825. PMID: 25734347
Infertility.
Jose-Miller AB, Boyden JW, Frey KA
Am Fam Physician 2007 Mar 15;75(6):849-56. PMID: 17390595

Clinical prediction guides

Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
An Overview of Systematic Reviews of Acupuncture for Infertile Women Undergoing in vitro Fertilization and Embryo Transfer.
Wang X, Wang Y, Wei S, He B, Cao Y, Zhang N, Li M
Front Public Health 2021;9:651811. Epub 2021 Apr 20 doi: 10.3389/fpubh.2021.651811. PMID: 33959581Free PMC Article
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Non-invasive prenatal testing in the context of IVF and PGT-A.
Kimelman D, Pavone ME
Best Pract Res Clin Obstet Gynaecol 2021 Jan;70:51-62. Epub 2020 Jul 15 doi: 10.1016/j.bpobgyn.2020.07.004. PMID: 32739290
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

Recent systematic reviews

Assisted Reproductive Techniques and Risk of Congenital Heart Diseases in Children: a Systematic Review and Meta-analysis.
Gullo G, Scaglione M, Laganà AS, Perino A, Andrisani A, Chiantera V, Cucinella G, Gitas G, Barra F, Riemma G
Reprod Sci 2023 Oct;30(10):2896-2906. Epub 2023 May 5 doi: 10.1007/s43032-023-01252-6. PMID: 37145300Free 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
Hysteroscopy for treating subfertility associated with suspected major uterine cavity abnormalities.
Bosteels J, van Wessel S, Weyers S, Broekmans FJ, D'Hooghe TM, Bongers MY, Mol BWJ
Cochrane Database Syst Rev 2018 Dec 5;12(12):CD009461. doi: 10.1002/14651858.CD009461.pub4. PMID: 30521679Free PMC Article
Review: Diagnosis and impact of sperm DNA alterations in assisted reproduction.
Simon L, Emery BR, Carrell DT
Best Pract Res Clin Obstet Gynaecol 2017 Oct;44:38-56. Epub 2017 Aug 2 doi: 10.1016/j.bpobgyn.2017.07.003. PMID: 28935366
Are sperm chromatin and DNA defects relevant in the clinic?
Zini A
Syst Biol Reprod Med 2011 Feb;57(1-2):78-85. Epub 2011 Jan 6 doi: 10.3109/19396368.2010.515704. PMID: 21208147

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