The Y chromosome: male reproduction and beyond
Por:
Krausz, C, Abrardo, C
Publicada:
1 jun 2025
Ahead of Print:
1 jun 2025
Resumen:
The crucial role of Y chromosome genes in male gonadal determination and reproductive fitness has been recognized for decades. Y chromosome microdeletions are the most common molecular genetic causes of azoospermia and severe spermatogenic impairment. Since the late 1990s, screening for these microdeletions has become a routine part of the diagnostic work-up of severe male factor infertility. In this article, we provide a concise overview of the Y chromosome's structure and gene content. We describe its clinically relevant alterations, detectable through karyotyping or molecular genetic tools, with a focus on their phenotypic impact and significance for genetic counseling. Finally, we discuss the broader implications of Y chromosome variations on health conditions beyond male infertility. (Fertil Steril (R) 2025;123:921-32. (c) 2025 by American Society for Reproductive Medicine.)
Filiaciones:
Krausz, C:
Univ Florence, Dept Expt & Clin Biomed Sci Mario Serio, viale Pieraccini n 6, I-50139 Florence, Italy
Univ Hosp Careggi AOUC, Dept Androl, Female Endocrinol & Gender Incongruence Unit, Florence, Italy
Abrardo, C:
Univ Florence, Dept Expt & Clin Biomed Sci Mario Serio, viale Pieraccini n 6, I-50139 Florence, Italy
Univ Autonoma Barcelona, Fundacio Puigvert, Inst Invest Biomed St Pau IIB St Pau, Dept Androl, Barcelona, Catalonia, Spain
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