Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic
Metadatos
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Cerván Martín, Miriam; Castilla Alcalá, José Antonio; Palomino Morales, Rogelio Jesús; Carmona López, Francisco DavidEditorial
MDPI
Materia
Male infertility Azoospermia Genetic component Mutations Single nucleotide polymorphisms (SNPs)
Fecha
2020-01-21Referencia bibliográfica
Cerván-Martín, M.; Castilla, J.A.; Palomino-Morales, R.J.; Carmona, F.D. Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic. J. Clin. Med. 2020, 9, 300. [doi:10.3390/jcm9020300]
Patrocinador
Funded by the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (ref. SAF2016-78722-R) and the “Ramón y Cajal” program (ref. RYC-2014-16458).Resumen
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, di erent 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.