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Abnormal germ cell morphology

MedGen UID:
868310
•Concept ID:
C4022704
•
Anatomical Abnormality
Synonyms: Abnormal shape of a reproductive cell; Abnormally shaped germ cell; Abnormally shaped reproductive cell
 
HPO: HP:0012862

Definition

Any structural anomaly of a reproductive cell. [from HPO]

Professional guidelines

PubMed

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023.
Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F
Andrology 2024 Mar;12(3):487-504. Epub 2023 Sep 6 doi: 10.1111/andr.13514. PMID: 37674303
Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation.
Cornelisse S, Zagers M, Kostova E, Fleischer K, van Wely M, Mastenbroek S
Cochrane Database Syst Rev 2020 Sep 8;9(9):CD005291. doi: 10.1002/14651858.CD005291.pub3. PMID: 32898291Free PMC Article
Intracytoplasmic sperm injection (ICSI) for non-male factor indications: a committee opinion.
Practice Committees of the American Society for Reproductive Medicine and the Society for Assisted Reproductive Technology. Electronic address: [email protected]
Fertil Steril 2020 Aug;114(2):239-245. Epub 2020 Jul 9 doi: 10.1016/j.fertnstert.2020.05.032. PMID: 32654822

Recent clinical studies

Etiology

Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders.
Akutsu SN, Fujita K, Tomioka K, Miyamoto T, Matsuura S
Cells 2020 Jan 17;9(1) doi: 10.3390/cells9010239. PMID: 31963583Free PMC Article
Pluripotent Cell Models for Gonadal Research.
Rodríguez Gutiérrez D, Biason-Lauber A
Int J Mol Sci 2019 Nov 4;20(21) doi: 10.3390/ijms20215495. PMID: 31690065Free PMC Article
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Neonatal cancer.
Orbach D, Sarnacki S, Brisse HJ, Gauthier-Villars M, Jarreau PH, Tsatsaris V, Baruchel A, Zerah M, Seigneur E, Peuchmaur M, Doz F
Lancet Oncol 2013 Dec;14(13):e609-20. doi: 10.1016/S1470-2045(13)70236-5. PMID: 24275134
Mosaic RASopathies.
Hafner C, Groesser L
Cell Cycle 2013 Jan 1;12(1):43-50. Epub 2012 Dec 19 doi: 10.4161/cc.23108. PMID: 23255105Free PMC Article

Diagnosis

Single-cell analysis of developing and azoospermia human testicles reveals central role of Sertoli cells.
Zhao L, Yao C, Xing X, Jing T, Li P, Zhu Z, Yang C, Zhai J, Tian R, Chen H, Luo J, Liu N, Deng Z, Lin X, Li N, Fang J, Sun J, Wang C, Zhou Z, Li Z
Nat Commun 2020 Nov 10;11(1):5683. doi: 10.1038/s41467-020-19414-4. PMID: 33173058Free PMC Article
Advanced sperm testing.
Softness KA, Trussler JT, Carrasquillo RJ
Curr Opin Urol 2020 May;30(3):290-295. doi: 10.1097/MOU.0000000000000761. PMID: 32235275
Androgen insensitivity syndrome.
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Globozoospermia revisited.
Dam AH, Feenstra I, Westphal JR, Ramos L, van Golde RJ, Kremer JA
Hum Reprod Update 2007 Jan-Feb;13(1):63-75. Epub 2006 Sep 28 doi: 10.1093/humupd/dml047. PMID: 17008355

Therapy

Androgen insensitivity syndrome.
Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA
Best Pract Res Clin Endocrinol Metab 2015 Aug;29(4):569-80. Epub 2015 Apr 26 doi: 10.1016/j.beem.2015.04.005. PMID: 26303084
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Human oocyte maturation in vitro.
Coticchio G, Dal-Canto M, Guglielmo MC, Mignini-Renzini M, Fadini R
Int J Dev Biol 2012;56(10-12):909-18. doi: 10.1387/ijdb.120135gv. PMID: 23417413
Oocyte cryopreservation: advances and drawbacks.
Dovey S
Minerva Ginecol 2012 Dec;64(6):485-500. PMID: 23232533
The origin of monozygotic twinning.
Scott L
Reprod Biomed Online 2002 Nov-Dec;5(3):276-84. doi: 10.1016/s1472-6483(10)61833-0. PMID: 12470527

Prognosis

The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes.
Sá R, Ferraz L, Barros A, Sousa M
Genes (Basel) 2023 Mar 4;14(3) doi: 10.3390/genes14030647. PMID: 36980920Free PMC Article
Human Oocyte Morphology and Outcomes of Infertility Treatment: a Systematic Review.
Nikiforov D, Grøndahl ML, Hreinsson J, Andersen CY
Reprod Sci 2022 Oct;29(10):2768-2785. Epub 2021 Nov 23 doi: 10.1007/s43032-021-00723-y. PMID: 34816375
Androgen insensitivity syndrome.
Tadokoro-Cuccaro R, Hughes IA
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):499-503. doi: 10.1097/MED.0000000000000107. PMID: 25354046
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Hyperglycosylated hCG.
Cole LA
Placenta 2007 Oct;28(10):977-86. Epub 2007 Mar 7 doi: 10.1016/j.placenta.2007.01.011. PMID: 17346790

Clinical prediction guides

Deciphering the Molecular Characteristics of Human Idiopathic Nonobstructive Azoospermia from the Perspective of Germ Cells.
Chen Y, Liu X, Zhang L, Zhu F, Yan L, Tang W, Zhang Z, Liu Q, Jiang H, Qiao J
Adv Sci (Weinh) 2023 Jun;10(17):e2206852. Epub 2023 Apr 21 doi: 10.1002/advs.202206852. PMID: 37083227Free PMC Article
Human Oocyte Morphology and Outcomes of Infertility Treatment: a Systematic Review.
Nikiforov D, Grøndahl ML, Hreinsson J, Andersen CY
Reprod Sci 2022 Oct;29(10):2768-2785. Epub 2021 Nov 23 doi: 10.1007/s43032-021-00723-y. PMID: 34816375
Globozoospermia revisited.
Dam AH, Feenstra I, Westphal JR, Ramos L, van Golde RJ, Kremer JA
Hum Reprod Update 2007 Jan-Feb;13(1):63-75. Epub 2006 Sep 28 doi: 10.1093/humupd/dml047. PMID: 17008355
Current advances in artificial gametes.
Nagy ZP, Chang CC
Reprod Biomed Online 2005 Sep;11(3):332-9. doi: 10.1016/s1472-6483(10)60841-3. PMID: 16176674
Maldescendus testis.
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886

Recent systematic reviews

Human Oocyte Morphology and Outcomes of Infertility Treatment: a Systematic Review.
Nikiforov D, Grøndahl ML, Hreinsson J, Andersen CY
Reprod Sci 2022 Oct;29(10):2768-2785. Epub 2021 Nov 23 doi: 10.1007/s43032-021-00723-y. PMID: 34816375
Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation.
Cornelisse S, Zagers M, Kostova E, Fleischer K, van Wely M, Mastenbroek S
Cochrane Database Syst Rev 2020 Sep 8;9(9):CD005291. doi: 10.1002/14651858.CD005291.pub3. PMID: 32898291Free PMC Article
Sperm DNA Fragmentation: Consequences for Reproduction.
Simon L, Emery B, Carrell DT
Adv Exp Med Biol 2019;1166:87-105. doi: 10.1007/978-3-030-21664-1_6. PMID: 31301048
Effects of aging on the male reproductive system.
Gunes S, Hekim GN, Arslan MA, Asci R
J Assist Reprod Genet 2016 Apr;33(4):441-54. Epub 2016 Feb 11 doi: 10.1007/s10815-016-0663-y. PMID: 26867640Free PMC Article
The relationship between isolated teratozoospermia and clinical pregnancy after in vitro fertilization with or without intracytoplasmic sperm injection: a systematic review and meta-analysis.
Hotaling JM, Smith JF, Rosen M, Muller CH, Walsh TJ
Fertil Steril 2011 Mar 1;95(3):1141-5. Epub 2010 Oct 28 doi: 10.1016/j.fertnstert.2010.09.029. PMID: 21030014

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