Non-syndromic monogenic male infertility.
Journal
Acta bio-medica : Atenei Parmensis
ISSN: 2531-6745
Titre abrégé: Acta Biomed
Pays: Italy
ID NLM: 101295064
Informations de publication
Date de publication:
30 09 2019
30 09 2019
Historique:
received:
06
08
2019
accepted:
06
08
2019
entrez:
3
10
2019
pubmed:
3
10
2019
medline:
24
10
2020
Statut:
epublish
Résumé
Infertility is a widespread clinical problem affecting 8-12% of couples worldwide. Of these, about 30% are diagnosed with idiopathic infertility since no causative factor is found. Overall 40-50% of cases are due to male reproductive defects. Numerical or structural chromosome abnormalities have long been associated with male infertility. Monogenic mutations have only recently been addressed in the pathogenesis of this condition. Mutations of specific genes involved in meiosis, mitosis or spermiohistogenesis result in spermatogenic failure, leading to the following anomalies: insufficient (oligozoospermia) or no (azoospermia) sperm production, limited progressive and/or total sperm motility (asthenozoospermia), altered sperm morphology (teratozoospermia), or combinations thereof. Androgen insensitivity, causing hormonal and sexual impairment in males with normal karyotype, also affects male fertility. The genetic causes of non-syndromic monogenic of male infertility are summarized in this article and a gene panel is proposed.
Identifiants
pubmed: 31577257
doi: 10.23750/abm.v90i10-S.8762
pmc: PMC7233647
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
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