Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y
Abstract Purpose Mosaic loss of chromosome Y (mLOY) is a common feature in elderly men. If mLOY can also occur in young men, it may lead to spermatogenic failure due to loss of spermatogenic genes. Indeed, previous studies detected the 45,X/46,XY karyotype in a few young men with spermatogenic failu...
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doaj-de1ae2876ed04bf4a44833944d2d28082020-11-25T01:48:01ZengWileyReproductive Medicine and Biology1445-57811447-05782020-04-0119217818110.1002/rmb2.12321Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome YErina Suzuki0Yoshitomo Kobori1Momori Katsumi2Kikumi Ushijima3Toru Uchiyama4Hiroshi Okada5Mami Miyado6Maki Fukami7Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo JapanDepartment of Urology Dokkyo Medical University Saitama Medical Center Koshigaya JapanDepartment of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo JapanDepartment of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo JapanDepartment of Human Genetics National Research Institute for Child Health and Development Tokyo JapanDepartment of Urology Dokkyo Medical University Saitama Medical Center Koshigaya JapanDepartment of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo JapanDepartment of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo JapanAbstract Purpose Mosaic loss of chromosome Y (mLOY) is a common feature in elderly men. If mLOY can also occur in young men, it may lead to spermatogenic failure due to loss of spermatogenic genes. Indeed, previous studies detected the 45,X/46,XY karyotype in a few young men with spermatogenic failure. The present study aimed to clarify the frequency of cryptic mLOY in reproductive‐aged men with spermatogenic failure. Methods We studied 198 men at ages 24‐55 years who presented with etiology‐unknown non‐obstructive azoospermia. Prior this study, these patients underwent G‐banding analysis for 20 leukocytes and were found to have 46,XY karyotype. We analyzed copy numbers of chromosome Y in blood cells by using semi‐quantitative multiplex PCR for AMELY/AMELX, array‐based comparative genomic hybridization (CGH) for the AMELY locus, and droplet digital PCR for SRY, USP9Y, and UTY. Results Multiplex PCR showed borderline low AMELY/AMELX ratios in three patients. However, for the three patients, CGH excluded deletion of the AMELY locus, and droplet digital PCR suggested preserved copy numbers of all tested loci. Conclusion This study highlights the rarity of leukocyte mLOY in reproductive‐aged men with spermatogenic failure. In addition, our data imply that standard karyotyping is sufficient to screen early onset mLOY.https://doi.org/10.1002/rmb2.12321azoospermiachromosome deletionkaryotypesex chromosomeY‐linked gene |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Erina Suzuki Yoshitomo Kobori Momori Katsumi Kikumi Ushijima Toru Uchiyama Hiroshi Okada Mami Miyado Maki Fukami |
spellingShingle |
Erina Suzuki Yoshitomo Kobori Momori Katsumi Kikumi Ushijima Toru Uchiyama Hiroshi Okada Mami Miyado Maki Fukami Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y Reproductive Medicine and Biology azoospermia chromosome deletion karyotype sex chromosome Y‐linked gene |
author_facet |
Erina Suzuki Yoshitomo Kobori Momori Katsumi Kikumi Ushijima Toru Uchiyama Hiroshi Okada Mami Miyado Maki Fukami |
author_sort |
Erina Suzuki |
title |
Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y |
title_short |
Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y |
title_full |
Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y |
title_fullStr |
Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y |
title_full_unstemmed |
Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y |
title_sort |
copy‐number analysis of y‐linked loci in young men with non‐obstructive azoospermia: implications for the rarity of early onset mosaic loss of chromosome y |
publisher |
Wiley |
series |
Reproductive Medicine and Biology |
issn |
1445-5781 1447-0578 |
publishDate |
2020-04-01 |
description |
Abstract Purpose Mosaic loss of chromosome Y (mLOY) is a common feature in elderly men. If mLOY can also occur in young men, it may lead to spermatogenic failure due to loss of spermatogenic genes. Indeed, previous studies detected the 45,X/46,XY karyotype in a few young men with spermatogenic failure. The present study aimed to clarify the frequency of cryptic mLOY in reproductive‐aged men with spermatogenic failure. Methods We studied 198 men at ages 24‐55 years who presented with etiology‐unknown non‐obstructive azoospermia. Prior this study, these patients underwent G‐banding analysis for 20 leukocytes and were found to have 46,XY karyotype. We analyzed copy numbers of chromosome Y in blood cells by using semi‐quantitative multiplex PCR for AMELY/AMELX, array‐based comparative genomic hybridization (CGH) for the AMELY locus, and droplet digital PCR for SRY, USP9Y, and UTY. Results Multiplex PCR showed borderline low AMELY/AMELX ratios in three patients. However, for the three patients, CGH excluded deletion of the AMELY locus, and droplet digital PCR suggested preserved copy numbers of all tested loci. Conclusion This study highlights the rarity of leukocyte mLOY in reproductive‐aged men with spermatogenic failure. In addition, our data imply that standard karyotyping is sufficient to screen early onset mLOY. |
topic |
azoospermia chromosome deletion karyotype sex chromosome Y‐linked gene |
url |
https://doi.org/10.1002/rmb2.12321 |
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