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

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

doi:10.1093/humupd/dmab030

Public

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

Published in Human Reproduction Update • Aug 18, 2021

Authors:

Brendan J. Houston

Antoni Riera‐Escamilla

Margot J. Wyrwoll

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 withou...

Subject

Infertility

Disease

Male infertility

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