Couple infertility is an emerging issue in the Western countries concerning about 15% of couples. Male reproductive anomalies are present in about half of the cases, either as the main reason or as a cofactor for couple infertility. Male infertility is a multifactorial complex pathological condition in which genetic factors play a relevant role. Known genetic factors can be detected in all etiologic categories of male infertility (hypothalamic-pituitary axis dysfunction, quantitative and qualitative alterations of spermatogenesis, ductal obstruction/dysfunction). The most frequent genetic factors in severe oligo/azoospermia are karyotype anomalies and AZF deletions, which are routinely tested during the diagnostic workup of male infertility. Mutation screening in candidate genes is indicated in specific semen/testis phenotypes. Genetic testing is essential for its relevance in clinical decision-making and for the risk of transmitting genetic disorders to the future offspring through in vitro fertilization (IVF) techniques. Thanks to the diffusion of massive parallel sequencing an increasing number of novel monogenic causes have been identified in the past few years. This method is increasingly adopted for diagnostic purposes across numerous laboratories.
Infertility male: Genetics / Krausz, Csilla; Farnetani, Ginevra; Cioppi, Francesca. - ELETTRONICO. - (2024), pp. 0-0. [10.1016/b978-0-443-13825-6.00106-0]
Infertility male: Genetics
Krausz, Csilla;Farnetani, Ginevra;Cioppi, Francesca
2024
Abstract
Couple infertility is an emerging issue in the Western countries concerning about 15% of couples. Male reproductive anomalies are present in about half of the cases, either as the main reason or as a cofactor for couple infertility. Male infertility is a multifactorial complex pathological condition in which genetic factors play a relevant role. Known genetic factors can be detected in all etiologic categories of male infertility (hypothalamic-pituitary axis dysfunction, quantitative and qualitative alterations of spermatogenesis, ductal obstruction/dysfunction). The most frequent genetic factors in severe oligo/azoospermia are karyotype anomalies and AZF deletions, which are routinely tested during the diagnostic workup of male infertility. Mutation screening in candidate genes is indicated in specific semen/testis phenotypes. Genetic testing is essential for its relevance in clinical decision-making and for the risk of transmitting genetic disorders to the future offspring through in vitro fertilization (IVF) techniques. Thanks to the diffusion of massive parallel sequencing an increasing number of novel monogenic causes have been identified in the past few years. This method is increasingly adopted for diagnostic purposes across numerous laboratories.I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.