Toward clinical exomes in diagnostics and management of male infertility.

doi:10.1016/j.ajhg.2024.03.013

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Article

Toward clinical exomes in diagnostics and management of male infertility.

American journal of human genetics - 2 May 2024

Lillepea Kristiina, Juchnewitsch Anna-Grete, Kasak Laura, Valkna Anu, Dutta Avirup, Pomm Kristjan, Poolamets Olev, Nagirnaja Liina, Tamp Erik, Mahyari Eisa, Vihljajev Vladimir, Tjagur Stanislav, Papadimitriou Sofia, Riera-Escamilla Antoni, Versbraegen Nassim, Farnetani Ginevra, Castillo-Madeen Helen, Sütt Mailis, Kübarsepp Viljo, Tennisberg Sven, Korrovits Paul, Krausz Csilla, Aston Kenneth I, Lenaerts Tom, Conrad Donald F, Punab Margus, Laan Maris

Abstract excerpt

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...

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Identifiers

PMID: 38614076
DOI: 10.1016/j.ajhg.2024.03.013
PMCID: PMC11080280

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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