RT Journal Article
T1 Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic.
A1 Cerván-Martín, Miriam
A1 Castilla, José A
A1 Palomino-Morales, Rogelio J
A1 Carmona, F David
K1 SNPs
K1 azoospermia
K1 genetic component
K1 male infertility
K1 mutations
AB Nonobstructive azoospermia (NOA) represents the most severe expression of male infertility, involving around 1% of the male population and 10% of infertile men. This condition is characterised by the inability of the testis to produce sperm cells, and it is considered to have an important genetic component. During the last two decades, different genetic anomalies, including microdeletions of the Y chromosome, karyotype defects, and missense mutations in genes involved in the reproductive function, have been described as the primary cause of NOA in many infertile men. However, these alterations only explain around 25% of azoospermic cases, with the remaining patients showing an idiopathic origin. Recent studies clearly suggest that the so-called idiopathic NOA has a complex aetiology with a polygenic inheritance, which may alter the spermatogenic process. Although we are far from a complete understanding of the molecular mechanisms underlying NOA, the use of the new technologies for genetic analysis has enabled a considerable increase in knowledge during the last years. In this review, we will provide a comprehensive and updated overview of the genetic basis of NOA, with a special focus on the possible application of the recent insights in clinical practice.
SN 2077-0383
YR 2020
FD 2020-01-21
LK https://hdl.handle.net/10668/26448
UL https://hdl.handle.net/10668/26448
LA en
DS RISalud
RD Apr 10, 2025