Original articleScreening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?
Section snippets
Study Participants
This work was performed between 1997–2011 at the Institute for Study of Fertility in our medical center. The DNA of 1,260 infertile men was evaluated for AZF microdeletions in the three AZF regions. Six-hundred ninety-nine men were azoospermic, 319 were severe oligozoospermic (≤5 million sperm/mL in semen), and 242 were infertile with unreported semen quality. The blood samples for which semen quality was unavailable were from men who had been referred from other Israeli fertility clinics to
Results
Seventy-two of the 1,260 patients (5.7%) had an AZF microdeletion in at least one of the AZF regions (AZFa, b, and/or c). AZF microdeletions were more frequently detected among the nonobstructive azoospermic (NOA) men (8.4%) than among the severe oligozoospermic men (3.4%). Only two NOA men had complete AZFa deletion (Fig. 1), yielding a frequency of 0.16% of the total population and a higher frequency (0.28%, 2 out of 699 men) among the NOA men. As such, AZFa represented only 2.6% of the
Discussion
The present study evaluated partial and complete AZFa microdeletions in the Y chromosome for the prevalence and prospect for complete spermatogenesis among heretofore unpublished infertile Israeli men and in all cases in the literature from 2000 to 2010. AZFa microdeletions reported up to 1999 were summarized previously (24). A complete AZFa deletion turns out to be a rare phenomenon (0.28%), even among NOA men. The negligible chances of finding mature sperm cells for artificial reproduction
Acknowledgments
The authors thank Esther Eshkol for editorial assistance and Veronica Gold and Mira Malcov for their technical help with the microsatellites.
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2024, Journal of Obstetrics and Gynaecology CanadaConcomitance of 47,XXY, a balanced reciprocal translocation of t(4;17)(q12;q11.2) encompassing SPINK2 at 4q12 and NOS at 17q11.2 and an AZFa sY86 deletion in an infertile male
2023, Taiwanese Journal of Obstetrics and GynecologyChromosomal microarray analysis of infertile men with azoospermia factor microdeletions
2020, GeneCitation Excerpt :Deletion analysis in infertile men showed that the AZF locus is divided into three sub-regions; AZFa, AZFb, and AZFc (Repping et al., 2002). Deletions in the AZFa region are usually relevant to complete Sertoli cell only type I syndrome (SCOS type I) and azoospermia (Kleiman et al, 2012), whereas deletions in the AZFb region are associated with azoospermia caused by arrest of meiosis (Longepied et al, 2010; Krausz et al., 2014; Mitra et al., 2008; Colaco and Modo, 2018). In addition to complete deletion of AZFc, several partial deletions have also been identified in the AZFc region (Vijesh et al., 2015; Bansal et al. 2016a,b).
Nonneoplastic Diseases of the Testis
2020, Urologic Surgical PathologySex chromosomes-linked single-gene disorders involved in human infertility
2019, European Journal of Medical GeneticsCitation Excerpt :Putative spermatogenesis genes on the Y chromosome have been mapped to the so called ‘‘azoospermia factor’’ (AZF) region on Yq11 which is subdivided by location from proximal to distal into AZFa (Yq11.21), AZFb (Yq11.22), and AZFc (Yq11.23) (Layman, 2003; Zorrilla and Yatsenko, 2013; Dhanoa et al., 2016). Deletions in these locations are responsible for varying degrees of spermatogenic dysfunction (Hwang et al., 2010): distinct histopathology phenotypes were correlated with the site of the microdeletion, varying from complete absence of germ cells (Sertoli Cell-Only Syndrome) in patients with AZFa microdeletions, maturation arrest at meiosis in cases with AZFb microdeletions, to hypospermatogenesis in patients with AZFc microdeletions (Costa et al., 2008; Fernandes et al., 2002; Foresta et al., 2000a; Gonçalves et al., 2017; Kamp et al., 2001; Kleiman et al., 2012; Soares et al., 2012; Sun et al., 2000; Vogt et al., 1996). Deletions of the AZFc locus occur more frequently (65–70%) than AZFa or AZFb locus (Krausz et al., 2006; Tahmasbpour et al., 2014).
Molecular genetic study on AZFa and AZFb sub region microdeletions in infertile men of Gujarat, Western India
2017, Meta GeneCitation Excerpt :AZFa contain two main candidate genes which are involved in spermatogenesis, one is USP9Y (ubiquitin specific peptidase 9 on the Y chromosome) also known as DFFRY and other is DDX3Y (DEAD-Asp-Glu-Ala-Asp box polypeptide 3 on the Y chromosome) also known as DBY (Lahn and Page, 1997). The mode of deletion of complete AZFa is homologous intra-chromosomal recombination occur between two provirus sequences of human endogenous retrovirus, HERV15 spaced by approximately 800 kb and located at proximal Yq11 (Kamp et al., 2001; Kleiman et al., 2012; Sun et al., 2000). The deletion of AZFa is comparatively less and cause sertoli cell only syndrome (Sun et al., 2000; Krausz et al., 2006; Nailwal and Chauhan, 2017d).
S.E.K. has nothing to disclose. R.A. has nothing to disclose. L.Y. has nothing to disclose. R.H. has nothing to disclose. O.L. has nothing to disclose. G.P. has nothing to disclose. H.Y. has nothing to disclose. A.B. has nothing to disclose.