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Review

46 Citations

8,259 Views

27 Pages

External and Genetic Conditions Determining Male Infertility

Piotr Kamiński,
Jędrzej Baszyński,
Izabela Jerzak,
Brendan P. Kavanagh,
Ewa Nowacka-Chiari,
Mateusz Polanin,
Marek Szymański,
Alina Woźniak and
Wojciech Kozera

Int. J. Mol. Sci.2020, 21(15), 5274;https://doi.org/10.3390/ijms21155274

24 July 2020

We explain environmental and genetic factors determining male genetic conditions and infertility and evaluate the significance of environmental stressors in shaping defensive responses, which is used in the diagnosis and treatment of male infertility...

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Case Report

1,114 Views

3 Pages

Cystic Fibrosis or Not? Familial Occurrence of a Rare Mutation in the CFTR Gene

Paweł Zapolnik and
Beata Zapolnik

Adv. Respir. Med.2020, 88(6), 612-614;https://doi.org/10.5603/ARM.a2020.0142

30 October 2020

Cystic fibrosis is a monogenic disease caused by a mutation in the CFTR gene. The classic presentation of the disease includes chronic bronchopulmonary symptoms. However, abnormalities in this gene may also be manifested by other phenotypes, so-calle...

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Review

132 Citations

18,659 Views

33 Pages

Genetics of Azoospermia

Francesca Cioppi,
Viktoria Rosta and
Csilla Krausz

Int. J. Mol. Sci.2021, 22(6), 3264;https://doi.org/10.3390/ijms22063264

23 March 2021

Azoospermia affects 1% of men, and it can be due to: (i) hypothalamic-pituitary dysfunction, (ii) primary quantitative spermatogenic disturbances, (iii) urogenital duct obstruction. Known genetic factors contribute to all these categories, and geneti...

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Review

2 Citations

3,759 Views

23 Pages

Cystic Fibrosis and Male Infertility: From Genetics to Future Perspectives in Assisted Reproductive Technologies

Aris Kaltsas

Genes2025, 16(9), 994;https://doi.org/10.3390/genes16090994

25 August 2025

Background/Objectives: Male infertility is a prevalent and often underrecognized manifestation of cystic fibrosis (CF), primarily caused by congenital bilateral absence of the vas deferens (CBAVD) due to CFTR gene mutations. With improved life expect...

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