Genetics of Azoospermia.
CBAVD
Klinefelter syndrome
NGS
NOA
Y chromosome microdeletions
azoospermia
congenital hypogonadotropic hypogonadism
exome
genetics
infertility
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
23 Mar 2021
23 Mar 2021
Historique:
received:
24
02
2021
revised:
11
03
2021
accepted:
17
03
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
1
5
2021
Statut:
epublish
Résumé
Azoospermia affects 1% of men, and it can be due to: (i) hypothalamic-pituitary dysfunction, (ii) primary quantitative spermatogenic disturbances, (iii) urogenital duct obstruction. Known genetic factors contribute to all these categories, and genetic testing is part of the routine diagnostic workup of azoospermic men. The diagnostic yield of genetic tests in azoospermia is different in the different etiological categories, with the highest in Congenital Bilateral Absence of Vas Deferens (90%) and the lowest in Non-Obstructive Azoospermia (NOA) due to primary testicular failure (~30%). Whole-Exome Sequencing allowed the discovery of an increasing number of monogenic defects of NOA with a current list of 38 candidate genes. These genes are of potential clinical relevance for future gene panel-based screening. We classified these genes according to the associated-testicular histology underlying the NOA phenotype. The validation and the discovery of novel NOA genes will radically improve patient management. Interestingly, approximately 37% of candidate genes are shared in human male and female gonadal failure, implying that genetic counselling should be extended also to female family members of NOA patients.
Identifiants
pubmed: 33806855
pii: ijms22063264
doi: 10.3390/ijms22063264
pmc: PMC8004677
pii:
doi:
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministero dell'Istruzione, dell'Università e della Ricerca
ID : PRIN 2018
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