Molecular cytogenetic studies of 25 males with azoospermia / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the clinical correlation of chromosome abnormalities and microdeletion in azoospermic factor (AZF) region on Y chromosome in 25 patients with azoospermia.</p><p><b>METHODS</b>Chromosome analyses were performed by using chromosome GTG-banding, Q-banding, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) for AZF region on chromosome Yq.</p><p><b>RESULTS</b>Seven cases showed abnormal chromosome karyotype (28%). In 8 azoospermic patients tested, 2 showed microdeletions of AZFb (SY127, SY134)+ AZFc (SY254, SY255) and AZFc(SY243, SY158) on chromosome Yq, respectively.</p><p><b>CONCLUSION</b>Chromosome abnormalities and AZF microdeletion are major cause of azoospermia leading to male infertility; male with azoospermia and infertility should be referred to cytogenetic diagnosis by using chromosome GTG-banding, Q-banding after ruling out clinical factors including testopathy, obstructive azoospermia, and abnormalities in incretion and immune system. FISH or PCR analysis for AZF region on chromosome Yq should be done for the patient with azoospermia if Q-banding indicates the deletion above Yq12 region. It is of essential importance to provide precise diagnosis in genetic counseling for further clinical treatment.</p>