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 …

[HTML][HTML] Variant PNLDC1, Defective piRNA Processing, and Azoospermia

L Nagirnaja, N Mørup, JE Nielsen… - … England Journal of …, 2021 - Mass Medical Soc
Background P-element–induced wimpy testis (PIWI)–interacting RNAs (piRNAs) are short
(21 to 35 nucleotides in length) and noncoding and are found almost exclusively in germ …

[HTML][HTML] 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 …

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 …

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) …

[HTML][HTML] 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 …

[HTML][HTML] Infertility in men: advances towards a comprehensive and integrative strategy for precision theranostics

M Assidi - Cells, 2022 - mdpi.com
Male infertility is an increasing and serious medical concern, though the mechanism
remains poorly understood. Impaired male reproductive function affects approximately half …

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 …

[HTML][HTML] The evolving role of genetic tests in reproductive medicine

F Cariati, V D'Argenio, R Tomaiuolo - Journal of translational medicine, 2019 - Springer
Infertility is considered a major public health issue, and approximately 1 out of 6 people
worldwide suffer from infertility during their reproductive lifespans. Thanks to technological …