• PMID: 11695273
• Gene Name: DDX3Y
• Condition: Infertility
• Association: The results suggest that AZFa gene deletion is infrequent in Taiwanese patients with severe oligozoospermia or non-obstructive azoospermia
• Mutation: DFFRY deletion, DBY deletion
• Population size: 303
• Population details: 303 (183 severe oligozoospermia or non-obstructive azoospermia, 120 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: AZFa gene
• Other associated phenotypes: Sertoli cell-only syndrome, hypospermatogenesis, Azoospermia, Oligozoospermia

AZFa candidate gene deletions in Taiwanese patients with spermatogenic failure

Lin YM, Teng YN, Lee PC, Lin YH, Hsu CC, Lin JS, Kuo PL.

BACKGROUND AND PURPOSE: Deletions of the azoospermia factor subregion a (AZFa) genes in proximal Yq11 are not frequently reported. The majority of AZFa deletions are thought to be associated with more severe testicular phenotypes, such as Sertoli cell-only syndrome. There is a lack of data on AZFa gene deletions in East Asian populations. In this study, we investigated the deletion status of AZFa genes in Taiwanese men with spermatogenic failure. METHODS: One hundred and eighty-three consecutive men with severe oligozoospermia or non-obstructive azoospermia were enrolled in this study. Genomic DNA was extracted from peripheral blood samples and polymerase chain reaction (PCR) was performed using primers specific to four AZFa genes: AZFaT1, DFFRY, DBY, and UTY. Sequence-tagged site markers (sY740, sY630, sY86, sY85, sY87, sY709, and sY88) were used to define the position of deletions. One hundred and twenty fertile men with normal spermatogenesis were enrolled as controls. RESULTS: Of the 183 patients, two showed single AZFa gene deletions, resulting in an overall frequency of 1.1%. One of these two patients had DFFRY deletion and the other had DBY deletion; their testicular phenotypes were Sertoli cell-only syndrome and hypospermatogenesis, respectively. Neither patient had deletions extending from AZFa through AZFb or AZFc. CONCLUSION: Our results suggest that AZFa gene deletion is infrequent in Taiwanese patients with severe oligozoospermia or non-obstructive azoospermia. FAU - Lin, Y M AU - Lin YM AD - Department of Urology, National Cheng Kung University, College of Medicine, Tainan. FAU - Teng, Y N AU - Teng YN FAU - Lee, P C AU - Lee PC FAU - Lin, Y H AU - Lin YH FAU - Hsu, C C AU - Hsu CC FAU - Lin, J S AU - Lin JS