Genetics of azoospermia
Azoospermia affects 1% of men, and it can be due to:(i) hypothalamic-pituitary
dysfunction,(ii) primary quantitative spermatogenic disturbances,(iii) urogenital duct …
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 …
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …
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 …
treated by testicular sperm extraction followed by intracytoplasmic sperm injection. The aim …
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) …
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 …
incurable. Defining the genetic basis of NOA has proven challenging, and the most …
Management of male factor infertility: position statement from the Italian Society of Andrology and Sexual Medicine (SIAMS) endorsing organization: Italian Society of …
Abstract Purpose Infertility affects 15–20% of couples and male factors are present in about
half of the cases. For many aspects related to the diagnostic and therapeutic approach of …
half of the cases. For many aspects related to the diagnostic and therapeutic approach of …
Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility
B Stallmeyer, C Bühlmann, R Stakaitis… - Nature …, 2024 - nature.com
Abstract piRNAs are crucial for transposon silencing, germ cell maturation, and fertility in
male mice. Here, we report on the genetic landscape of piRNA dysfunction in humans and …
male mice. Here, we report on the genetic landscape of piRNA dysfunction in humans and …
Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia
C Xie, W Wang, C Tu, L Meng, G Lu… - Human reproduction …, 2022 - academic.oup.com
BACKGROUND Meiosis is an essential stage in the life cycle of sexually reproducing
species, underlying formation of haploid gametes and serving as the basis of genetic …
species, underlying formation of haploid gametes and serving as the basis of genetic …
Consensus and diversity in the management of varicocele for male infertility: results of a global practice survey and comparison with guidelines and recommendations
R Shah, A Agarwal, P Kavoussi… - The world journal of …, 2022 - pmc.ncbi.nlm.nih.gov
Purpose Varicocele is a common problem among infertile men. Varicocele repair (VR) is
frequently performed to improve semen parameters and the chances of pregnancy …
frequently performed to improve semen parameters and the chances of pregnancy …
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine
A Heddar, C Ogur, S Da Costa, I Braham… - …, 2022 - thelancet.com
Summary Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-
3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are …
3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are …