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

Abstract

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

Grants

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