Keywords
genotype-phenotype correlation
testicular volume
azoospermia
micro-TESE
ICSI
Y chromosome
Uzbekistan.
How to Cite
Abstract
This study evaluated genotype-phenotype correlations and the prognostic value of Y-chromosome AZF microdeletions for the outcomes of surgical sperm retrieval in 93 infertile men carrying AZF deletions, drawn from a cohort of 626 men (Uzbekistan) examined by real-time multiplex PCR. Testicular volume differed markedly by deletion type: near-normal in AZFc carriers (14.4 ml), reduced in AZFa carriers (11.3 ml), paradoxically increased in isolated AZFb (19.2 ml), and severely reduced in the total AZFa+b+c deletion (6.2-6.8 ml), consistent with variable degrees of germinal epithelium loss. Complete AZFa and AZFb deletions, alone or combined, were associated with azoospermia in 100% of carriers, whereas AZFc deletions produced a heterogeneous phenotype: 59% azoospermia and 41% severe oligozoospermia, reflecting focal preservation of spermatogenesis through the DAZ gene cluster.References
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