Analysis of 29 Targeted Genes for Non-Obstructive Azoospermia: The Relationship between Genetic Testing and Testicular Histology.
Azoospermia
Male infertility
Next-generation sequencing
Spermatogenesis
Testicular histology
Journal
The world journal of men's health
ISSN: 2287-4208
Titre abrégé: World J Mens Health
Pays: Korea (South)
ID NLM: 101596899
Informations de publication
Date de publication:
Apr 2023
Apr 2023
Historique:
received:
15
01
2022
revised:
21
04
2022
accepted:
01
05
2022
pubmed:
2
9
2022
medline:
2
9
2022
entrez:
1
9
2022
Statut:
ppublish
Résumé
To analyze the presence of potentially pathogenic variants of 29 candidate genes known to cause spermatogenic failure (SPGF) in patients with non-obstructive azoospermia (NOA) who underwent testicular histology. Forty-eight patients with unexplained NOA referred to the Department of Transfusion Medicine and Transplantation Biology, University Hospital Center Zagreb, Zagreb, Croatia for testicular biopsy. They were divided into three groups: those who had cryptorchidism (n=9), those with varicocele (n=14), and those with idiopathic NOA (n=25). All included patients underwent blood withdrawal for next-generation sequencing (NGS) analysis and gene sequencing. We found a possible genetic cause in 4 patients with idiopathic NOA (16%) and in 2 with cryptorchidism (22%). No pathogenic or possibly pathogenic mutations were identified in patients with varicocele. Variants of undetermined significance (VUS) were found in 11 patients with idiopathic NOA (44%), 3 with cryptorchidism (33%), and 8 patients with varicocele (57%). VUSs of the Different mutations of the same gene cause various testicular histological pictures. These results suggest that it is not the gene itself but the type of mutation/variation that determines the testicular histology picture. Based on the data presented above, it remains challenging to design a genetic panel with prognostic value for the outcome of testicular sperm extraction in patients with NOA.
Identifiants
pubmed: 36047072
pii: 40.e51
doi: 10.5534/wjmh.220009
pmc: PMC10042652
doi:
Types de publication
Journal Article
Langues
eng
Pagination
422-433Subventions
Organisme : Scientific Center of Excellence for Reproductive and Regenerative Medicine
Pays : Croatia
Organisme : European Union
ID : KK.01.1.1.01.0008
Informations de copyright
Copyright © 2023 Korean Society for Sexual Medicine and Andrology.
Déclaration de conflit d'intérêts
The authors have nothing to disclose.
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