Abstract
BackgroundThe AZFc deletion has been associated with wide range of phenotypes including complete absence of germ cells in the testes (SCOS), reduction in germ cells hypospermatogenesis, and maturation arrest. The main objective of this study was to evaluate the relationship between AZFc microdeletions and testicular histology in South Chinese men with azoospermia or severe oligospermia.Findings338 men presenting with idiopathic non-obstructive azoospermia or severe oligospermia were evaluated between March 2012 and April 2015. Thirty-nine of the patients examined had an AZFc deletion (10.9 %). Testicular cytopathology was examined in 25 patients with an AZFc microdeletion and 14 with an AZFc deletion. There was no significant difference in the testicular histology of patients with partial or complete AZFc deletions (Mann–Whitney U = 152.500, p = 0.515). There was an association between testicular histology and gr/gr, b1/b3 or b2/b3 deletion (Fisher’s exact test, p = 0.013).ConclusionsMen with a gr/gr partial deletion were at higher risk of having hypospermatogenesis or maturation arrest. Men with a b1/b3 partial deletion were at higher risk of having maturation arrest. Men with a b2/b3 partial deletion were at higher risk of having maturation arrest or complete absence of germ cells in the testes.
Highlights
The AZFc deletion has been associated with wide range of phenotypes including complete absence of germ cells in the testes (SCOS), reduction in germ cells hypospermatogenesis, and maturation arrest
Men with a gr/gr partial deletion were at higher risk of having hypospermatogenesis or maturation arrest
Men with a b1/b3 partial deletion were at higher risk of having maturation arrest
Summary
The AZFc deletion has been associated with wide range of phenotypes including complete absence of germ cells in the testes (SCOS), reduction in germ cells hypospermatogenesis, and maturation arrest. Of infertile patients with Y chromosome deletions, 5 % have deletions in AZFa, 10–16 % have deletions in AZFb, and 60 % have deletions in AZFc (Vogt 1998; Foresta et al 2001; Hopps et al.2003). Deletions in two or three AZF regions have been reported in 14 % of infertile patients (Foresta et al 2001). Deletion of the entire AZFa region is associated with the severe testicular phenotype, Sertoli cell only syndrome. Complete removal of the AZFb region is associated with spermatogenic arrest at meiosis (Vogt et al 1996; Dada et al 2004)
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