High prevalence of GR/GR deletions in korean patients with oligozoospermia

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To assess the association between partial AZFc deletions within the Azoospermia factor (AZF) c region and spermatogenetic impairment in Korean patients. Prospective study for partial AZFc deletions in Korean infertile men. The subjects selected comprise 46 men with normal spermatogenesis (> 20 X 106/ml) and 357 men with spermatogenic failure. The latter group included 232 patients with azoospermia (no spermatozoa in the ejaculates after centrifugation), 36 patients with cryptozoospermia (few sperm in the ejaculate that were only present after centrifugation, not during the initial evaluation), 53 patients with severe oligozoospermia (0.1 ≤ sperm count < 5 X 106/ml) and 36 patients with oligozoospermia (5 ≤ sperm count ≤ 20 X 106/ml). Partial AZFc deletion screening was performed with three plus/minus PCR assays (sY1191, sY1291, sY1206 and a control gene, SOHLH2). The absence of sY1191, sY1291, sY1191/sY1291, and sY1206 represents the b2/b3, gr/gr, b1/b3 and b3/b4 deletions, respectively. Totally, fifty eight out of 403 patients (14.4%) had subdeletions in AZFc region. Among the men with spermatogenic failure (n = 357), fifty four cases were partial AZFc deletions (15.1%); 31 of gr/gr (8.7%), 18 of b2/b3 (5.0%), 4 of b1/b3 (1.1%) and one of b3/b4 (0.3%) deletion. On the other hand, four out of 46 men with normal spermatogenesis (8.7%) showed partial AZFc deletions, including one gr/gr deletions (2.2%) and three b2/b3 deletions (6.5%). The frequency of gr/gr deletions was significantly higher in men with spermatogenic failure, especially patients with oligozoospermia (5/36, 13.9%), than in men with normal spermatogenesis (chi-square test, p = 0.04). Our data showed that a partial AZFc deletion, gr/gr deletion is associated with impaired spermatogenesis in Korean.