Chihara Makoto, Ogi Kanna, Ishiguro Tatsuya, Yoshida Kunihiko, Godo Chikako, Takakuwa Koichi, Enomoto Takayuki
Department of Obstetrics and Gynecology Niigata University Medical and Dental Hospital Niigata Japan.
Reprod Med Biol. 2018 Mar 8;17(2):209-216. doi: 10.1002/rmb2.12092. eCollection 2018 Apr.
Microdissection testicular sperm extraction (micro-TESE) was performed on five Japanese men with non-mosaic Klinefelter's syndrome (KS) and non-obstructive azoospermia in the authors' department. Here is reported the operative results and partner's clinical course for two cases where spermatozoa could be acquired. Also encountered was a man with non-mosaic KS with the partial deletion of azoospermia factor (AZF)b. Because this is rare, it is reported in detail in the context of the previous literature. This case series describes the first experience of micro-TESE by gynecologists in the current department.
The egg collection date was adjusted to the micro-TESE day by using the modified ultra-long method. Intracytoplasmic sperm injection (ICSI) was implemented for two men whose spermatozoa were acquired by micro-TESE, with these progressing to the blastocyst stage. Subsequently, one case conceived after the transfer of fresh embryos and a healthy baby was delivered. However, spermatozoa could not be retrieved from the man with non-mosaic KS who was harboring the partial deletion of AZFb.
These findings suggest that ovulation induction by using the modified ultra-long method with micro-TESE and ICSI on the same day represents an effective treatment option for men with non-mosaic KS. As there are cases where AZF deletion is recognized among patients with non-mosaic KS, screening before micro-TESE is strongly recommended.
作者所在科室对5名患有非嵌合型克兰费尔特综合征(KS)且非梗阻性无精子症的日本男性进行了显微切割睾丸精子提取术(显微TESE)。本文报告了两例成功获取精子的手术结果及配偶的临床过程。还遇到一名患有非嵌合型KS且无精子症因子(AZF)b部分缺失的男性。由于这种情况较为罕见,故结合既往文献详细报道。该病例系列描述了当前科室妇科医生首次进行显微TESE的经验。
采用改良超长方案将取卵日期调整至显微TESE当天。对两名通过显微TESE获取精子的男性实施了卵胞浆内单精子注射(ICSI),胚胎发育至囊胚阶段。随后,1例在新鲜胚胎移植后受孕并分娩出一名健康婴儿。然而,未从携带AZFb部分缺失的非嵌合型KS男性体内获取到精子。
这些发现表明,采用改良超长方案诱导排卵并于同日进行显微TESE和ICSI,是治疗非嵌合型KS男性的有效选择。鉴于在非嵌合型KS患者中存在AZF缺失的情况,强烈建议在显微TESE前进行筛查。