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

BJ Houston, A Riera-Escamilla… - Human reproduction …, 2022 - academic.oup.com
BACKGROUND Human male infertility has a notable genetic component, including well-
established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and …

Male infertility

A Agarwal, S Baskaran, N Parekh, CL Cho, R Henkel… - The Lancet, 2021 - thelancet.com
It is estimated that infertility affects 8–12% of couples globally, with a male factor being a
primary or contributing cause in approximately 50% of couples. Causes of male subfertility …

Single-cell analysis of developing and azoospermia human testicles reveals central role of Sertoli cells

LY Zhao, CC Yao, XY Xing, T Jing, P Li, ZJ Zhu… - Nature …, 2020 - nature.com
Clinical efficacy of treatments against non-obstructive azoospermia (NOA), which affects 1%
of men, are currently limited by the incomplete understanding of NOA pathogenesis and …

Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia

ZE Kherraf, C Cazin, A Bouker, SFB Mustapha… - The American Journal of …, 2022 - cell.com
Non-obstructive azoospermia (NOA) is a severe and frequent cause of male infertility, often
treated by testicular sperm extraction followed by intracytoplasmic sperm injection. The aim …

Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

Genetics of azoospermia

F Cioppi, V Rosta, C Krausz - International Journal of Molecular Sciences, 2021 - mdpi.com
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …

A systematic review and standardized clinical validity assessment of male infertility genes

MS Oud, L Volozonoka, RM Smits… - Human …, 2019 - academic.oup.com
STUDY QUESTION Which genes are confidently linked to human monogenic male
infertility? SUMMARY ANSWER Our systematic literature search and clinical validity …

Genetic architecture of azoospermia—time to advance the standard of care

MJ Wyrwoll, N Köckerling, M Vockel, AK Dicke, N Rotte… - European urology, 2023 - Elsevier
Background Crypto-and azoospermia (very few/no sperm in the semen) are main
contributors to male factor infertility. Genetic causes for spermatogenic failure (SPGF) …

Diverse monogenic subforms of human spermatogenic failure

L Nagirnaja, AM Lopes, WL Charng, B Miller… - Nature …, 2022 - nature.com
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically
incurable. Defining the genetic basis of NOA has proven challenging, and the most …

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

C Krausz, A Riera-Escamilla, D Moreno-Mendoza… - Genetics in …, 2020 - nature.com
Purpose Azoospermia affects 1% of men and it can be the consequence of spermatogenic
maturation arrest (MA). Although the etiology of MA is likely to be of genetic origin, only 13 …