Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients' and Offspring Health.
ICSI
NOA
WES
Y chromosome
azoospermia
cancer
exome
general health
genes
genetics
infertility
offspring health
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
05 Sep 2021
05 Sep 2021
Historique:
received:
30
07
2021
revised:
30
08
2021
accepted:
31
08
2021
entrez:
10
9
2021
pubmed:
11
9
2021
medline:
11
9
2021
Statut:
epublish
Résumé
Non-Obstructive Azoospermia (NOA) affects about 1% of men in the general population and is characterized by clinical heterogeneity implying the involvement of several different acquired and genetic factors. NOA men are at higher risk to be carriers of known genetic anomalies such as karyotype abnormalities and Y-chromosome microdeletions in respect to oligo-normozoospermic men. In recent years, a growing number of novel monogenic causes have been identified through Whole Exome Sequencing (WES). Genetic testing is useful for diagnostic and pre-TESE prognostic purposes as well as for its potential relevance for general health. Several epidemiological observations show a link between azoospermia and higher morbidity and mortality rate, suggesting a common etiology for NOA and some chronic diseases, including cancer. Since on average 50% of NOA patients has a positive TESE outcome, the identification of genetic factors in NOA patients has relevance also to the offspring's health. Although still debated, the observed increased risk of certain neurodevelopmental disorders, as well as impaired cardiometabolic and reproductive health profile in children conceived with ICSI from NOA fathers may indicate the involvement of transmissible genetic factors. This review provides an update on the reproductive and general health consequences of known genetic factors causing NOA, including offspring's health.
Identifiants
pubmed: 34501457
pii: jcm10174009
doi: 10.3390/jcm10174009
pmc: PMC8432470
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Subventions
Organisme : Ente Cassa di Risparmio di Firenze
ID : 2020
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