合併AZFc基因部分缺損的非阻塞性無精症男性患者之治療結果分析
陳威任1, 黃志賢1,2,3, 黃奕燊1,2,3, 林登龍1,2,3, 陳光國1,2,3,
1臺北榮民總醫院 泌尿部
2國立陽明大學 醫學院 泌尿學科 3書田泌尿科學研究中心
The outcome analysis of azfc subdeletion in males with non-obstructive azoospermia
Wei-Jen Chen1, William J.S. Huang1,2,3, I-Shen Huang1,2,3, Alex T.L. Lin1,2,3, Kuang-Kuo Chen1,2,3
1Department of Urology, Taipei Veterans General Hospital
2Department of Urology, School of Medicine, and 3Shu-Tien Urological Science Research Center, National Yang-Ming University
Purpose: Azoospermia factors (AZF) are located on the long arm of Y chromosome and has been divided into three regions (AZFa, AZFb, AZFc). During homologous recombination of Y chromosome, deletions may occurred in these regions. The AZFc region is particularly susceptible to deletions because its structure composed of many palindromes. To date, some deletions resulting in partial loss of AZFc region had been reported, and their relationship with male infertility had been discussed. We presented the treatment outcome in our hospital among non-obstructive azoospermia (NOA) patients with AZFc subdeletion.
Materials and Methods: We retrospectively enrolled and analyzed AZFc subdeletion patients from 2008 to 2014. The b2/b4 (AZFc total deletion) deletion cases were not included. Totally 95 patients were diagnosed AZFc subdeletion during this period, and among them, 48 patients were NOA. We recruited another 109 age-matched NOA patients without AZF subdeletion as control group. The hormone profile, sperm retrieval rate, pregnancy rate were compared between these two groups.
Results: Among the 157 NOA patients, 104 had received microdissection testicular sperm extraction (micro-TESE). The sperm retrieval rate was 31.2% in NOA patients with AZFc subdeletion, compared with 27.8% in control group. (p=0.718) The most frequent AZFc subdeletion is g1/g3 (n=23), followed by gr/gr (n=17). The sperm retrieval rate was 25% in gr/gr deletion, 31.2% in g1/g3 deletion, and 50% in other AZFc subdeletions. (p=0.646)
The pregnancy rate was 18.8% in NOA patients with AZFc subdeletion, compared with 12.5% in control group. (p=0.439)
Conclusions: In our data from limited patients, the sperm retrieval rate seems poorer in NOA patients with gr/gr deletion, but better in patient with other not gr/gr AZFc subdeletion. Although gr/gr deletion is reported as a risk factor in male infertility in Western population, further information from more patients is still needed to confirm its clinical value in Tawainese population.