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Genetic Regulation of Physiological Reproductive Lifespan and Female Fertility
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Genetics of Azoospermia

Department of Biochemical, Experimental and Clinical Sciences “Mario Serio”, University of Florence, 50139 Florence, Italy
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Academic Editor: Otomar Linhart
Int. J. Mol. Sci. 2021, 22(6), 3264; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22063264
Received: 24 February 2021 / Revised: 11 March 2021 / Accepted: 17 March 2021 / Published: 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 genetic testing is part of the routine diagnostic workup of azoospermic men. The diagnostic yield of genetic tests in azoospermia is different in the different etiological categories, with the highest in Congenital Bilateral Absence of Vas Deferens (90%) and the lowest in Non-Obstructive Azoospermia (NOA) due to primary testicular failure (~30%). Whole-Exome Sequencing allowed the discovery of an increasing number of monogenic defects of NOA with a current list of 38 candidate genes. These genes are of potential clinical relevance for future gene panel-based screening. We classified these genes according to the associated-testicular histology underlying the NOA phenotype. The validation and the discovery of novel NOA genes will radically improve patient management. Interestingly, approximately 37% of candidate genes are shared in human male and female gonadal failure, implying that genetic counselling should be extended also to female family members of NOA patients. View Full-Text
Keywords: azoospermia; infertility; genetics; exome; NGS; NOA; Klinefelter syndrome; Y chromosome microdeletions; CBAVD; congenital hypogonadotropic hypogonadism azoospermia; infertility; genetics; exome; NGS; NOA; Klinefelter syndrome; Y chromosome microdeletions; CBAVD; congenital hypogonadotropic hypogonadism
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MDPI and ACS Style

Cioppi, F.; Rosta, V.; Krausz, C. Genetics of Azoospermia. Int. J. Mol. Sci. 2021, 22, 3264. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22063264

AMA Style

Cioppi F, Rosta V, Krausz C. Genetics of Azoospermia. International Journal of Molecular Sciences. 2021; 22(6):3264. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22063264

Chicago/Turabian Style

Cioppi, Francesca, Viktoria Rosta, and Csilla Krausz. 2021. "Genetics of Azoospermia" International Journal of Molecular Sciences 22, no. 6: 3264. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22063264

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