Genetic disorders and male infertility.
Klinefelter syndrome
azoospermia
genetic disorder
male infertility
sex chromosome aberrations
Journal
Reproductive medicine and biology
ISSN: 1445-5781
Titre abrégé: Reprod Med Biol
Pays: Japan
ID NLM: 101213278
Informations de publication
Date de publication:
Oct 2020
Oct 2020
Historique:
received:
18
04
2020
revised:
08
06
2020
accepted:
13
06
2020
entrez:
19
10
2020
pubmed:
20
10
2020
medline:
20
10
2020
Statut:
epublish
Résumé
At present, one out of six couples is infertile, and in 50% of cases, infertility is attributed to male infertility factors. Genetic abnormalities are found in 10%-20% of patients showing severe spermatogenesis disorders, including non-obstructive azoospermia. Literatures covering the relationship between male infertility and genetic disorders or chromosomal abnormalities were studied and summarized. Genetic disorders, including Klinefelter syndrome, balanced reciprocal translocation, Robertsonian translocation, structural abnormalities in Y chromosome, XX male, azoospermic factor (AZF) deletions, and congenital bilateral absence of vas deferens were summarized and discussed from a practical point of view. Among them, understanding on AZF deletions significantly changed owing to advanced elucidation of their pathogenesis. Due to its technical progress, AZF deletion test can reveal their delicate variations and predict the condition of spermatogenesis. Thirty-nine candidate genes possibly responsible for azoospermia have been identified in the last 10 years owing to the advances in genome sequencing technologies. Genetic testing for chromosomes and AZF deletions should be examined in cases of severe oligozoospermia and azoospermia. Genetic counseling should be offered before and after genetic testing.
Sections du résumé
BACKGROUND
BACKGROUND
At present, one out of six couples is infertile, and in 50% of cases, infertility is attributed to male infertility factors. Genetic abnormalities are found in 10%-20% of patients showing severe spermatogenesis disorders, including non-obstructive azoospermia.
METHODS
METHODS
Literatures covering the relationship between male infertility and genetic disorders or chromosomal abnormalities were studied and summarized.
MAIN FINDINGS RESULTS
UNASSIGNED
Genetic disorders, including Klinefelter syndrome, balanced reciprocal translocation, Robertsonian translocation, structural abnormalities in Y chromosome, XX male, azoospermic factor (AZF) deletions, and congenital bilateral absence of vas deferens were summarized and discussed from a practical point of view. Among them, understanding on AZF deletions significantly changed owing to advanced elucidation of their pathogenesis. Due to its technical progress, AZF deletion test can reveal their delicate variations and predict the condition of spermatogenesis. Thirty-nine candidate genes possibly responsible for azoospermia have been identified in the last 10 years owing to the advances in genome sequencing technologies.
CONCLUSION
CONCLUSIONS
Genetic testing for chromosomes and AZF deletions should be examined in cases of severe oligozoospermia and azoospermia. Genetic counseling should be offered before and after genetic testing.
Identifiants
pubmed: 33071633
doi: 10.1002/rmb2.12336
pii: RMB212336
pmc: PMC7542010
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
314-322Informations de copyright
© 2020 The Authors. Reproductive Medicine and Biology published by John Wiley & Sons Australia, Ltd on behalf of Japan Society for Reproductive Medicine.
Déclaration de conflit d'intérêts
Conflict of interest: The authors report no conflicts of interest. Human/Animal rights statement: This article does not contain any studies with human or animal subjects.
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