Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic

被引:70
作者
Cervan-Martin, Miriam [1 ,2 ,3 ]
Castilla, Jose A. [3 ,4 ,5 ]
Palomino-Morales, Rogelio J. [3 ,6 ]
David Carmona, F. [1 ,2 ,3 ]
机构
[1] Univ Granada, Ctr Invest Biomed CIBM, Dept Genet, Parque Tecnol Ciencias Salud,Av Conocimiento,S-N, Granada 18016, Spain
[2] Univ Granada, Ctr Invest Biomed CIBM, Inst Biotecnol, Parque Tecnol Ciencias Salud,Av Conocimiento,S-N, Granada 18016, Spain
[3] Inst Invest Biosanit Ibs GRANADA, Av Madrid 15,Pabellon Consultas Externas 2, Granada 18012, Spain
[4] HU Virgen Nieves, UGC Obstet & Ginecol, Unidad Reprod, Av Fuerzas Armadas 2, Granada 18014, Spain
[5] CEIFER Biobanco NextClin, Calle Maestro Breton 1, Granada 18004, Spain
[6] Univ Granada, Fac Ciencias, Dept Bioquim & Biol Mol 1, Av Fuente Nueva S-N, E-18071 Granada, Spain
关键词
male infertility; azoospermia; genetic component; mutations; SNPs; HUMAN Y-CHROMOSOME; ANDROGEN RECEPTOR GENE; STEROIDOGENIC FACTOR-I; CAG REPEAT LENGTH; METHYLENETETRAHYDROFOLATE REDUCTASE GENE; SINGLE-NUCLEOTIDE POLYMORPHISMS; IDIOPATHIC MALE-INFERTILITY; GENOME-WIDE ASSOCIATION; MALE-FERTILITY TRAITS; MALE-SPECIFIC REGION;
D O I
10.3390/jcm9020300
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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页数:27
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