Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility
Copyright© 2022, Avicenna Research Institute..
Background: Approximately 1 in 1000 men have a 47,XYY karyotype. Previous publications have presented cases of infertile XYY men and have suggested that the additional Y chromosome may cause disrupted meiosis leading to sperm apoptosis. The purpose of the current study was to determine whether XYY men are over-represented in infertility cohorts.
Methods: In this paper, an ongoing infertility cohort was evaluated for Y chromosome microdeletions using the MLPA technique and the data from the first 2000 referrals were recorded. Moreover, the MLPA technique detected 47,XYY karyotypes.
Results: Four XYY individuals were identified within the cohort. One of the four XYY men was shown to have an apparent gr/gr partial AZFc deletion on both Y chromosomes while Sertoli cell only syndrome was detected in another case. The other two cases (out of 2000) might, therefore, represent an incidental finding.
Conclusion: The gr/gr deletion is not detectable by the multiplex PCR method; therefore, there might be additional explanations for the fertility problems of infertile XYY men reported in previously published articles. It seems that among other cases, their XYY karyotype may be coincidental, rather than causative of their fertility issues.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:23 |
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| Enthalten in: |
Journal of reproduction & infertility - 23(2022), 4 vom: 27. Okt., Seite 296-302 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Bunyan, David J [VerfasserIn] |
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| Links: |
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| Themen: |
Azoospermia |
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| Anmerkungen: |
Date Revised 02.12.2022 published: Print Citation Status PubMed-not-MEDLINE |
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| doi: |
10.18502/jri.v23i4.10816 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM349648557 |
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| 100 | 1 | |a Bunyan, David J |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility |
| 264 | 1 | |c 2022 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
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| 500 | |a Date Revised 02.12.2022 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a Copyright© 2022, Avicenna Research Institute. | ||
| 520 | |a Background: Approximately 1 in 1000 men have a 47,XYY karyotype. Previous publications have presented cases of infertile XYY men and have suggested that the additional Y chromosome may cause disrupted meiosis leading to sperm apoptosis. The purpose of the current study was to determine whether XYY men are over-represented in infertility cohorts | ||
| 520 | |a Methods: In this paper, an ongoing infertility cohort was evaluated for Y chromosome microdeletions using the MLPA technique and the data from the first 2000 referrals were recorded. Moreover, the MLPA technique detected 47,XYY karyotypes | ||
| 520 | |a Results: Four XYY individuals were identified within the cohort. One of the four XYY men was shown to have an apparent gr/gr partial AZFc deletion on both Y chromosomes while Sertoli cell only syndrome was detected in another case. The other two cases (out of 2000) might, therefore, represent an incidental finding | ||
| 520 | |a Conclusion: The gr/gr deletion is not detectable by the multiplex PCR method; therefore, there might be additional explanations for the fertility problems of infertile XYY men reported in previously published articles. It seems that among other cases, their XYY karyotype may be coincidental, rather than causative of their fertility issues | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Azoospermia | |
| 650 | 4 | |a Chromosomal deletion | |
| 650 | 4 | |a Infertility | |
| 650 | 4 | |a Men | |
| 650 | 4 | |a Sex chromosome disorders | |
| 650 | 4 | |a XYY karyotype | |
| 700 | 1 | |a Saran, Mili |e verfasserin |4 aut | |
| 700 | 1 | |a Hobbs, James I |e verfasserin |4 aut | |
| 700 | 1 | |a Anderson, David J |e verfasserin |4 aut | |
| 700 | 1 | |a Duncan-Flavell, Philippa J |e verfasserin |4 aut | |
| 700 | 1 | |a Howarth, Rachel J |e verfasserin |4 aut | |
| 700 | 1 | |a Callaway, Jonathan L A |e verfasserin |4 aut | |
| 700 | 1 | |a MacPherson, James N |e verfasserin |4 aut | |
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| 773 | 1 | 8 | |g volume:23 |g year:2022 |g number:4 |g day:27 |g month:10 |g pages:296-302 |
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