Journal article

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.

Brendan J Houston, Antoni Riera-Escamilla, Margot J Wyrwoll, Albert Salas-Huetos, Miguel J Xavier, Liina Nagirnaja, Corinna Friedrich, Don F Conrad, Kenneth I Aston, Csilla Krausz, Frank Tüttelmann, Moira K O'Bryan, Joris A Veltman, Manon S Oud

Hum Reprod Update | Published : 2021


BACKGROUND: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a genetic cause, but a majority (60-70%) remain without a clear diagnosis and are classified as unexplained. This is likely in large part due to a delay in the field adopting next-generation sequencing (NGS) technologies, and the absence of clear statements from field leaders as to what constitutes a validated cause of human male infertility (the current paper aims to address this). Fortunately, there has been a significant increase in the number of ..

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University of Melbourne Researchers


Awarded by National Health and Medical Research Council

Awarded by The Netherlands Organisation for Scientific Research

Awarded by Wellcome Trust

Awarded by National Institutes of Health: Genomics of Spermatogenic Impairment

Awarded by Spanish Ministry of Health Instituto Carlos III-FIS-FEDER