High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46, XY mosaicism
Rev. bras. pesqui. méd. biol
; Braz. j. med. biol. res;53(3): e8980, 2020. tab
Article
em En
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| ID: biblio-1089344
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BR1.1
ABSTRACT
The mosaic 45,X/46,XY karyotype is a common sex chromosomal abnormality in infertile men. Males with this mosaic karyotype can benefit from assisted reproductive therapies, but the transmitted abnormalities contain 45,X aneuploidy as well as Y chromosome microdeletions. The aim of this study was to investigate the clinical and genetic characteristics of infertile men diagnosed with 45,X/46,XY mosaicism in China. Of the 734 infertile men found to carry chromosomal abnormalities, 14 patients were carriers of 45,X/46,XY mosaicism or its variants, giving a prevalence of 0.27% (14/5269) and accounting for 1.91% (14/734) of patients with a chromosomal abnormality. There were ten cases (71.43%, 10/14) of 45,X mosaicism exhibiting AZF microdeletions. Case 1 and Case 4 had AZFc deletions, and the other eight cases had AZFb+c deletions. A high frequency of Y chromosome microdeletions were detected in male patients with 45,X/46,XY mosaicism. Preimplantation genetic diagnosis should be offered to men having intracytoplasmic sperm injection for hypospermatogenesis caused by 45,X/46,XY mosaicism, to avoid the risk of transfering AZF microdeletions in addition to X monosomy in male offspring.
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LILACS
Assunto principal:
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual
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Infertilidade Masculina
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Mosaicismo
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Braz. j. med. biol. res
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Rev. bras. pesqui. méd. biol
Assunto da revista:
BIOLOGIA
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MEDICINA
Ano de publicação:
2020
Tipo de documento:
Article