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 …

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 …

A DNAH17 missense variant causes flagella destabilization and asthenozoospermia

B Zhang, H Ma, T Khan, A Ma, T Li, H Zhang… - Journal of Experimental …, 2020 - rupress.org
Asthenozoospermia is a common cause of male infertility, but its etiology remains
incompletely understood. We recruited three Pakistani infertile brothers, born to first-cousin …

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives

L Kasak, M Laan - Human genetics, 2021 - Springer
It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans

S Fan, Y Jiao, R Khan, X Jiang, AR Javed, A Ali… - The American Journal of …, 2021 - cell.com
Human infertility is a multifactorial disease that affects 8%–12% of reproductive-aged
couples worldwide. However, the genetic causes of human infertility are still poorly …

Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual …

A Capalbo, M Poli, A Riera-Escamilla… - Human reproduction …, 2021 - academic.oup.com
BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …

The Fanconi anemia pathway and fertility

V Tsui, W Crismani - Trends in Genetics, 2019 - cell.com
Fanconi anemia (FA) is a life-threatening syndrome characterized by bone marrow failure
and cancer predispositions. The past two decades have seen an explosion of data in the FA …

Genetic factors of non-obstructive azoospermia: consequences on patients' and offspring health

C Krausz, F Cioppi - Journal of Clinical Medicine, 2021 - mdpi.com
Non-Obstructive Azoospermia (NOA) affects about 1% of men in the general population and
is characterized by clinical heterogeneity implying the involvement of several different …

New insights into the genetics of spermatogenic failure: a review of the literature

R Cannarella, RA Condorelli, Y Duca, S La Vignera… - Human genetics, 2019 - Springer
Genetic anomalies are known to affect about 15% of infertile patients with azoospermia or
severe oligozoospermia. Despite a throughout diagnostic work-up, in up to the 72% of the …