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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
Preimplantation diagnosis and other modern methods for prenatal diagnosis.
Simpson JL, Rechitsky S
J Steroid Biochem Mol Biol 2017 Jan;165(Pt A):124-130. Epub 2016 Apr 21 doi: 10.1016/j.jsbmb.2016.03.022. PMID: 27108943

Recent clinical studies

Etiology

Cryptorchidism and puberty.
Rodprasert W, Virtanen HE, Toppari J
Front Endocrinol (Lausanne) 2024;15:1347435. Epub 2024 Mar 12 doi: 10.3389/fendo.2024.1347435. PMID: 38532895Free PMC Article
Thyroid dysfunction and semen quality.
La Vignera S, Vita R
Int J Immunopathol Pharmacol 2018 Jan-Dec;32:2058738418775241. doi: 10.1177/2058738418775241. PMID: 29737216Free 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
Spermatogenesis in cryptorchidism.
Agoulnik AI, Huang Z, Ferguson L
Methods Mol Biol 2012;825:127-47. doi: 10.1007/978-1-61779-436-0_11. PMID: 22144242

Diagnosis

The anatomy, movement, and functions of human sperm tail: an evolving mystery.
Kumar N, Singh AK
Biol Reprod 2021 Mar 11;104(3):508-520. doi: 10.1093/biolre/ioaa213. PMID: 33238303
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
Thyroid dysfunction and semen quality.
La Vignera S, Vita R
Int J Immunopathol Pharmacol 2018 Jan-Dec;32:2058738418775241. doi: 10.1177/2058738418775241. PMID: 29737216Free 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

Therapy

Pain Medications and Male Reproduction.
Drobnis EZ, Nangia AK
Adv Exp Med Biol 2017;1034:39-57. doi: 10.1007/978-3-319-69535-8_6. PMID: 29256126
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
Cryptorchidism --disease or symptom?
Toppari J, Rodprasert W, Virtanen HE
Ann Endocrinol (Paris) 2014 May;75(2):72-6. Epub 2014 Apr 29 doi: 10.1016/j.ando.2014.04.010. PMID: 24786701
Maldescendus testis.
Toppari J, Kaleva M
Horm Res 1999 Dec;51(6):261-9. doi: 10.1159/000023412. PMID: 10640886

Prognosis

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
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
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
Am J Hum Genet 2021 Feb 4;108(2):309-323. Epub 2021 Jan 19 doi: 10.1016/j.ajhg.2021.01.002. PMID: 33472045Free 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

Clinical prediction guides

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
Hu C, Huang H, Na J, Lumby C, Abozaid M, Holdren MA, Rao TJ, Karam R, Pesaran T, Weyandt JD, Csuy CM, Seelaus CA, Young CC, Fulk K, Heidari Z, Morais Lyra PC Jr, Couch RE, Persons B, Polley EC, Gnanaolivu RD, Boddicker NJ, Monteiro ANA, Yadav S, Domchek SM, Richardson ME, Couch FJ
Am J Hum Genet 2024 Mar 7;111(3):584-593. Epub 2024 Feb 27 doi: 10.1016/j.ajhg.2024.02.002. PMID: 38417439Free PMC Article
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
Germ cell loss in Klinefelter syndrome: When and why?
Willems M, Gies I, Van Saen D
Am J Med Genet C Semin Med Genet 2020 Jun;184(2):356-370. Epub 2020 May 15 doi: 10.1002/ajmg.c.31787. PMID: 32412180
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
Ovotoxicity of cigarette smoke: A systematic review of the literature.
Budani MC, Tiboni GM
Reprod Toxicol 2017 Sep;72:164-181. Epub 2017 Jul 3 doi: 10.1016/j.reprotox.2017.06.184. PMID: 28684319
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

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