Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
Centre for Reproductive Genetics A. Barros, Porto, Portugal.
JBRA Assist Reprod. 2022 Aug 4;26(3):412-421. doi: 10.5935/1518-0557.20210081.
The current study aimed to present the clinical outcomes of 76 azoospermic patients with non-mosaic Klinefelter syndrome (KS), treated with testicular spermatozoa extraction (TESE) followed by intracytoplasmic sperm injection (ICSI) using either fresh or cryopreserved testicular spermatozoa.
We retrospectively evaluated 76 patients with non-mosaic KS belonging to a special group of cases that besides infertility did not present the classical signs and symptoms of testosterone deficiency. One of the patients repeated the TESE procedure (76 patients, 77 TESE cycles). Sixty of these 76 patients accepted to undergo TESE associated with ovarian stimulation, while 16 patients underwent TESE followed by testicular spermatozoa cryopreservation. Aneuploidy screening of the offspring was performed by Multiplex ligation-dependent probe amplification and by amniotic fluid karyotyping. Statistical analysis used the Chi-Squared Test, Fisher's Exact Test, 2-sided, for rates, and the Independent Samples T-test for equality of means, 2-sided.
Testicular spermatozoa were recovered in 31 (40.3%) of the attempts. The patients underwent 47 ICSI cycles, 25 with fresh testicular spermatozoa and 22 with cryopreserved testicular spermatozoa. Fertilization (63.5% vs. 41.6%, p=0.000), implantation (37% vs. 13.2%, p=0.014), clinical pregnancy (60.9% vs. 19%, p=0.005) and live birth (65.2% vs. 23.8%, p=0.006) rates were higher with fresh testicular spermatozoa. Chromosome analysis of the 21 newborns was normal.
The present data adds further information regarding the recovery rate of spermatozoa after TESE and the embryological and clinical outcomes with fresh and cryopreserved testicular spermatozoa, besides reassuring the safety concerning chromosomal transmission of KS from parents to their offspring.
本研究旨在介绍 76 例非嵌合型克氏综合征(KS)不育患者的临床结局,这些患者接受了睾丸精子提取(TESE),随后使用新鲜或冷冻睾丸精子进行胞浆内精子注射(ICSI)。
我们回顾性评估了 76 例非嵌合型 KS 患者,这些患者属于特殊病例组,除了不育外,没有表现出典型的睾酮缺乏症状和体征。其中 1 例患者重复了 TESE 手术(76 例患者,77 次 TESE 周期)。这 76 例患者中有 60 例接受了 TESE 联合卵巢刺激,而 16 例患者接受了 TESE 后睾丸精子冷冻保存。通过多重连接依赖探针扩增和羊水核型分析对后代进行非整倍体筛查。统计分析采用卡方检验、Fisher 确切检验、双侧率,以及独立样本 T 检验,用于均值的均等性,双侧。
31 次尝试中(40.3%)成功回收了睾丸精子。患者接受了 47 次 ICSI 周期,其中 25 次使用新鲜睾丸精子,22 次使用冷冻睾丸精子。受精率(63.5% vs. 41.6%,p=0.000)、着床率(37% vs. 13.2%,p=0.014)、临床妊娠率(60.9% vs. 19%,p=0.005)和活产率(65.2% vs. 23.8%,p=0.006)均较高,使用新鲜睾丸精子。21 名新生儿的染色体分析正常。
本研究数据进一步提供了 TESE 后精子回收率以及新鲜和冷冻睾丸精子的胚胎学和临床结局的信息,同时也保证了 KS 患者从父母向后代传递染色体的安全性。