DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia.
Commun Biol
; 6(1): 350, 2023 03 31.
Article
in En
| MEDLINE
| ID: mdl-36997603
ABSTRACT
Non-obstructive azoospermia, the absence of sperm in the ejaculate due to disturbed spermatogenesis, represents the most severe form of male infertility. De novo microdeletions of the Y-chromosomal AZFa region are one of few well-established genetic causes for NOA and are routinely analysed in the diagnostic workup of affected men. So far, it is unclear which of the three genes located in the AZFa chromosomal region is indispensible for germ cell maturation. Here we present four different likely pathogenic loss-of-function variants in the AZFa gene DDX3Y identified by analysing exome sequencing data of more than 1,600 infertile men. Three of the patients underwent testicular sperm extraction and revealed the typical AZFa testicular Sertoli cell-only phenotype. One of the variants was proven to be de novo. Consequently, DDX3Y represents the AZFa key spermatogenic factor and screening for variants in DDX3Y should be included in the diagnostic workflow.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Azoospermia
/
Infertility, Male
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
/
Male
Language:
En
Journal:
Commun Biol
Year:
2023
Document type:
Article