{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lillepea K"],"funding":["NICHD NIH HHS","Instituto de Salud Carlos III","Estonian Research Council","FNRS","National Institutes of Health","Innoviris Foundation","Research Foundation Flanders"],"pagination":["877-895"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11080280"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["111(5)"],"pubmed_abstract":["Infertility, affecting ∼10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathogenic and pathogenic (LP/P) variants in 638 candidate genes for male infertility in 521 individuals presenting idiopathic SPGF and 323 normozoospermic men in the ESTAND cohort. Molecular diagnosis was reached for 64 men with SPGF (12%), with findings in 39 genes (6%). The yield did not differ significantly between the subgroups with azoospermia (20/185, 11%), oligozoospermia (18/181, 10%), and primary cryptorchidism with SPGF (26/155, 17%). Notably, 19 of 64 LP/P variants (30%) identified in 28 subjects represented recurrent findings in this study and/or with other male infertility cohorts. NR5A1 was the most frequently affected gene, with seven LP/P variants in six "],"journal":["American journal of human genetics"],"pubmed_title":["Toward clinical exomes in diagnostics and management of male infertility."],"pmcid":["PMC11080280"],"funding_grant_id":["R01 HD078641","P50 HD096723"],"pubmed_authors":["Aston KI","Korrovits P","Papadimitriou S","Conrad DF","Kubarsepp V","Lenaerts T","Tjagur S","Juchnewitsch AG","Farnetani G","Dutta A","Poolamets O","Nagirnaja L","Valkna A","Laan M","Vihljajev V","Castillo-Madeen H","Punab M","Versbraegen N","Tennisberg S","Sutt M","Kasak L","Mahyari E","Krausz C","Tamp E","Pomm K","Lillepea K","Riera-Escamilla A"],"additional_accession":[]},"is_claimable":false,"name":"Toward clinical exomes in diagnostics and management of male infertility.","description":"Infertility, affecting ∼10% of men, is predominantly caused by primary spermatogenic failure (SPGF). We screened likely pathogenic and pathogenic (LP/P) variants in 638 candidate genes for male infertility in 521 individuals presenting idiopathic SPGF and 323 normozoospermic men in the ESTAND cohort. Molecular diagnosis was reached for 64 men with SPGF (12%), with findings in 39 genes (6%). The yield did not differ significantly between the subgroups with azoospermia (20/185, 11%), oligozoospermia (18/181, 10%), and primary cryptorchidism with SPGF (26/155, 17%). Notably, 19 of 64 LP/P variants (30%) identified in 28 subjects represented recurrent findings in this study and/or with other male infertility cohorts. NR5A1 was the most frequently affected gene, with seven LP/P variants in six ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2026-07-15T09:36:45.28Z","creation":"2025-04-06T09:33:46.336Z"},"accession":"S-EPMC11080280","cross_references":{"pubmed":["38614076"],"doi":["10.1016/j.ajhg.2024.03.013"]}}