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Y chromosome deletions(DAZ)

MedGen UID:
419727
•Concept ID:
C2931163
•
Disease or Syndrome
Synonyms: DAZ; Deleted in azoospermia; Male sterility due to Y-chromosome deletions; Y chromosome microdeletions

Professional guidelines

PubMed

Genetic testing and counselling for male infertility.
Krausz C, Chianese C
Curr Opin Endocrinol Diabetes Obes 2014 Jun;21(3):244-50. doi: 10.1097/MED.0000000000000058. PMID: 24739313
Genetic screening in infertile Mexican men: chromosomal abnormalities, Y chromosome deletions, and androgen receptor CAG repeat length.
Martínez-Garza SG, Gallegos-Rivas MC, Vargas-Maciel M, Rubio-Rubio JM, de Los Monteros-Rodríguez ME, González-Ortega C, Cancino-Villarreal P, de Lara LG, Gutiérrez-Gutiérrez AM
J Androl 2008 Nov-Dec;29(6):654-60. Epub 2008 Jul 31 doi: 10.2164/jandrol.107.004309. PMID: 18676362
Genetic evidence equating SRY and the testis-determining factor.
Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M
Nature 1990 Nov 29;348(6300):448-50. doi: 10.1038/348448A0. PMID: 2247149

Recent clinical studies

Etiology

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
Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male.
Ghorbel M, Baklouti-Gargouri S, Keskes R, Sellami A, McElreavy K, Ammar-Keskes L
Hum Fertil (Camb) 2023 Dec;26(5):1238-1247. Epub 2023 Jan 2 doi: 10.1080/14647273.2022.2163194. PMID: 36591797
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Y chromosome b2/b3 deletions and male infertility: A comprehensive meta-analysis, trial sequential analysis and systematic review.
Bansal SK, Gupta G, Rajender S
Mutat Res Rev Mutat Res 2016 Apr-Jun;768:78-90. Epub 2016 May 4 doi: 10.1016/j.mrrev.2016.04.007. PMID: 27234565
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.
Krausz C, Hoefsloot L, Simoni M, Tüttelmann F; European Academy of Andrology; European Molecular Genetics Quality Network
Andrology 2014 Jan;2(1):5-19. doi: 10.1111/j.2047-2927.2013.00173.x. PMID: 24357628Free PMC Article

Diagnosis

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
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Genetic mutations contributing to non-obstructive azoospermia.
Peña VN, Kohn TP, Herati AS
Best Pract Res Clin Endocrinol Metab 2020 Dec;34(6):101479. Epub 2020 Dec 15 doi: 10.1016/j.beem.2020.101479. PMID: 33390350
Clinical implications of Y chromosome microdeletions among infertile men.
Punjani N, Kang C, Schlegel PN
Best Pract Res Clin Endocrinol Metab 2020 Dec;34(6):101471. Epub 2020 Nov 5 doi: 10.1016/j.beem.2020.101471. PMID: 33214080
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.
Krausz C, Hoefsloot L, Simoni M, Tüttelmann F; European Academy of Andrology; European Molecular Genetics Quality Network
Andrology 2014 Jan;2(1):5-19. doi: 10.1111/j.2047-2927.2013.00173.x. PMID: 24357628Free PMC Article

Therapy

Outcomes and affecting factors for ICSI and microTESE treatments in nonobstructive azoospermia patients with different etiologies: A retrospective analysis.
Gao S, Yang X, Xiao X, Yin S, Guan Y, Chen J, Chen Y
Front Endocrinol (Lausanne) 2022;13:1006208. Epub 2022 Oct 17 doi: 10.3389/fendo.2022.1006208. PMID: 36325443Free PMC Article
Multicentre study of Y chromosome microdeletions in 1,808 Chinese infertile males using multiplex and real-time polymerase chain reaction.
Zhu XB, Gong YH, He J, Guo AL, Zhi EL, Yao JE, Zhu BS, Zhang AJ, Li Z
Andrologia 2017 Jun;49(5) Epub 2016 Nov 10 doi: 10.1111/and.12662. PMID: 27862170
Y chromosome b2/b3 deletions and male infertility: A comprehensive meta-analysis, trial sequential analysis and systematic review.
Bansal SK, Gupta G, Rajender S
Mutat Res Rev Mutat Res 2016 Apr-Jun;768:78-90. Epub 2016 May 4 doi: 10.1016/j.mrrev.2016.04.007. PMID: 27234565
Varicocele and male infertility in Northeast China: Y chromosome microdeletion as an underlying cause.
Dai RL, Hou Y, Li FB, Yue JM, Xi Q, Liu RZ
Genet Mol Res 2015 Jun 12;14(2):6583-90. doi: 10.4238/2015.June.12.13. PMID: 26125865
Submicroscopic deletions in the Y chromosome of infertile men.
Girardi SK, Mielnik A, Schlegel PN
Hum Reprod 1997 Aug;12(8):1635-41. doi: 10.1093/humrep/12.8.1635. PMID: 9308784

Prognosis

The comparison of Y chromosome microdeletion incidence in blood DNA and sperm cell DNA.
Archana S, Vijayalakshmi J, Usha Rani G, Paul SFD, Reddy S, Manjula G
Mol Biol Rep 2023 Feb;50(2):1203-1208. Epub 2022 Nov 27 doi: 10.1007/s11033-022-08076-8. PMID: 36436077
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Clinical implications of Y chromosome microdeletions among infertile men.
Punjani N, Kang C, Schlegel PN
Best Pract Res Clin Endocrinol Metab 2020 Dec;34(6):101471. Epub 2020 Nov 5 doi: 10.1016/j.beem.2020.101471. PMID: 33214080
Testing for genetic contributions to infertility: potential clinical impact.
Krausz C, Cioppi F, Riera-Escamilla A
Expert Rev Mol Diagn 2018 Apr;18(4):331-346. Epub 2018 Mar 22 doi: 10.1080/14737159.2018.1453358. PMID: 29540081
Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia.
Goncalves C, Cunha M, Rocha E, Fernandes S, Silva J, Ferraz L, Oliveira C, Barros A, Sousa M
Asian J Androl 2017 May-Jun;19(3):338-345. doi: 10.4103/1008-682X.172827. PMID: 26908064Free PMC Article

Clinical prediction guides

Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F
Eur Urol 2023 May;83(5):452-462. Epub 2022 Jun 8 doi: 10.1016/j.eururo.2022.05.011. PMID: 35690514
Evaluation of Y chromosome microdeletions and chromosomal anomalies in infertile men.
Oz O
Horm Mol Biol Clin Investig 2021 Mar 8;42(3):279-283. doi: 10.1515/hmbci-2021-0003. PMID: 33675197
Testing for genetic contributions to infertility: potential clinical impact.
Krausz C, Cioppi F, Riera-Escamilla A
Expert Rev Mol Diagn 2018 Apr;18(4):331-346. Epub 2018 Mar 22 doi: 10.1080/14737159.2018.1453358. PMID: 29540081
Genetic causes of spermatogenic failure.
Massart A, Lissens W, Tournaye H, Stouffs K
Asian J Androl 2012 Jan;14(1):40-8. Epub 2011 Dec 5 doi: 10.1038/aja.2011.67. PMID: 22138898Free PMC Article
Oxidative stress, DNA damage and the Y chromosome.
Aitken RJ, Krausz C
Reproduction 2001 Oct;122(4):497-506. doi: 10.1530/rep.0.1220497. PMID: 11570956

Recent systematic reviews

A Systematic Review of the Impact of Mitochondrial Variations on Male Infertility.
Amor H, Hammadeh ME
Genes (Basel) 2022 Jun 30;13(7) doi: 10.3390/genes13071182. PMID: 35885965Free PMC Article
Reproductive outcomes of intracytoplasmic sperm injection using testicular sperm and ejaculated sperm in patients with AZFc microdeletions: a systematic review and meta-analysis.
Zhou Y, Deng CC, Liu WJ, Liu H, Zheng HB, Tang YG, Zhang XZ, Deng JH
Asian J Androl 2021 Sep-Oct;23(5):495-500. doi: 10.4103/aja.aja_1_21. PMID: 33605899Free PMC Article
The Prevalence of Y-chromosome Microdeletions in Oligozoospermic Men: A Systematic Review and Meta-analysis of European and North American Studies.
Kohn TP, Kohn JR, Owen RC, Coward RM
Eur Urol 2019 Nov;76(5):626-636. Epub 2019 Aug 8 doi: 10.1016/j.eururo.2019.07.033. PMID: 31400948
Y chromosome b2/b3 deletions and male infertility: A comprehensive meta-analysis, trial sequential analysis and systematic review.
Bansal SK, Gupta G, Rajender S
Mutat Res Rev Mutat Res 2016 Apr-Jun;768:78-90. Epub 2016 May 4 doi: 10.1016/j.mrrev.2016.04.007. PMID: 27234565
Y chromosome gr/gr deletions are a risk factor for low semen quality.
Visser L, Westerveld GH, Korver CM, van Daalen SK, Hovingh SE, Rozen S, van der Veen F, Repping S
Hum Reprod 2009 Oct;24(10):2667-73. Epub 2009 Jul 14 doi: 10.1093/humrep/dep243. PMID: 19602516

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