State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
Reproductive Medicine Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China.
Hum Reprod. 2018 Mar 1;33(3):372-377. doi: 10.1093/humrep/dex382.
Are Sad1 and UNC84 domain containing 5 (SUN5) mutations associated with the outcomes of ICSI in patients with acephalic spermatozoa syndrome (ASS)?
Despite highly abnormal sperm morphology, ASS patients with SUN5 mutations have a favorable pregnancy outcome following ICSI.
ASS is a rare cause of infertility characterized by the production of a majority of headless spermatozoa, along with a small proportion of intact spermatozoa with an abnormal head-tail junction. Previous studies have demonstrated that SUN5 mutations may cause ASS. Several studies showed that ICSI could help patients with ASS father children.
STUDY DESIGN, SIZE, DURATION: This retrospective cohort study included 11 infertile ASS males with SUN5 mutations. Five of them underwent five ICSI cycles. Their ICSI results were compared to men with ASS without SUN5 mutations (n = 3) and to men with multiple morphological abnormalities of the sperm flagella (MMAF) (n = 9). All ICSI treatments were completed between Jan 2011 and May 2017.
PARTICIPANTS/MATERIALS, SETTING, METHODS: Sanger DNA sequencing was used to detect mutations in SUN5. Clinical and biological data were collected from patients at the fertility center.
Sanger sequencing validated 11 patients with SUN5 mutations. Three novel mutations in SUN5 (c.829C>T [p.Q277*]; c.1067G>A [p.R356H]; c.211+1 insGT [p.S71Cfs11*]) were identified in three patients. The rates of fertilization, good-quality embryos and pregnancy for five patients with SUN5 mutations following ICSI were 81.5%, 81.8% and 100%, respectively. The rates of fertilization and good-quality embryos in patients with MMAF were significantly lower compared with ASS patients (65.6 versus 82.4%, P = 0.039 and 53.6 versus 85.2%, P = 0.031, respectively). There were no differences in ICSI results between ASS patients with and without SUN5 mutations.
LIMITATIONS, REASONS FOR CAUTION: Only a small number patients with SUN5 mutations was available because of its rare incidence.
Patients with ASS can be effectively treated with ICSI. SUN5 mutations may be one of the genetic causes of ASS.
STUDY FUNDING/COMPETING INTEREST(S): This study was supported by the National Natural Science Foundation of China (81401251, 81370754, and 81170559), the Jiangsu Province Special Program of Medical Science (BL2012009, ZX201110, FXK201221) and a project funded by PAPD of the Priority Academic Program Development of Jiangsu High Education Institutions (JX10231802). None of the authors have any competing interests.
Sad1 和 UNC84 结构域包含 5（SUN5）突变是否与无头精子症综合征（ASS）患者的 ICSI 结果相关？
尽管精子形态高度异常，但具有 SUN5 突变的 ASS 患者在接受 ICSI 后妊娠结局良好。
ASS 是一种罕见的不育症病因，其特征是大多数精子无头，同时伴有一小部分头-尾连接异常的完整精子。先前的研究表明，SUN5 突变可能导致 ASS。几项研究表明，ICSI 可以帮助 ASS 患者生育孩子。
研究设计、大小、持续时间：这项回顾性队列研究纳入了 11 名具有 SUN5 突变的不育 ASS 男性。其中 5 名患者接受了 5 个 ICSI 周期。将他们的 ICSI 结果与无 SUN5 突变的 ASS 男性（n = 3）和具有多种精子鞭毛形态异常（MMAF）的男性（n = 9）进行比较。所有 ICSI 治疗均于 2011 年 1 月至 2017 年 5 月完成。
参与者/材料、设置、方法：使用 Sanger DNA 测序检测 SUN5 中的突变。从生育中心的患者那里收集临床和生物学数据。
Sanger 测序验证了 11 名具有 SUN5 突变的患者。在 3 名患者中发现了 SUN5 中的 3 个新突变（c.829C>T [p.Q277*]；c.1067G>A [p.R356H]；c.211+1 insGT [p.S71Cfs11*]）。5 名具有 SUN5 突变的患者接受 ICSI 后的受精率、优质胚胎率和妊娠率分别为 81.5%、81.8%和 100%。MMAF 患者的受精率和优质胚胎率明显低于 ASS 患者（65.6 与 82.4%，P = 0.039 和 53.6 与 85.2%，P = 0.031）。ASS 患者中具有和不具有 SUN5 突变的 ICSI 结果无差异。
局限性、谨慎的原因：由于发病率较低，只有少数具有 SUN5 突变的患者可用。
ASS 患者可以通过 ICSI 得到有效治疗。SUN5 突变可能是 ASS 的遗传原因之一。
研究资金/竞争利益：本研究得到了中国国家自然科学基金（81401251、81370754、81170559）、江苏省医学科学特别项目（BL2012009、ZX201110、FXK201221）和江苏省高等教育机构优先学术项目发展计划（PAPD）项目的资助（JX10231802）。作者均无任何竞争利益。
