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五例非嵌合型克兰费尔特综合征日本患者的显微切割睾丸取精术

Microdissection testicular sperm extraction in five Japanese patients with non-mosaic Klinefelter's syndrome.

作者信息

Chihara Makoto, Ogi Kanna, Ishiguro Tatsuya, Yoshida Kunihiko, Godo Chikako, Takakuwa Koichi, Enomoto Takayuki

机构信息

Department of Obstetrics and Gynecology Niigata University Medical and Dental Hospital Niigata Japan.

出版信息

Reprod Med Biol. 2018 Mar 8;17(2):209-216. doi: 10.1002/rmb2.12092. eCollection 2018 Apr.

DOI:10.1002/rmb2.12092
PMID:29692680
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5902470/
Abstract

CASES

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.

OUTCOME

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.

CONCLUSION

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.

摘要

病例

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。

结果

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。

结论

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。

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本文引用的文献

1
Complete Azoospermia Factor b Deletion of Y Chromosome in an Infertile Male With Severe Oligoasthenozoospermia: Case Report and Literature Review.严重少弱精子症不育男性的Y染色体完全无精子症因子b缺失:病例报告及文献复习
Urology. 2017 Apr;102:111-115. doi: 10.1016/j.urology.2016.07.022. Epub 2016 Jul 26.
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Flexibility in starting ovarian stimulation at different phases of the menstrual cycle for treatment of infertile women with the use of in vitro fertilization or intracytoplasmic sperm injection.对于接受体外受精或卵胞浆内单精子注射治疗的不孕女性,在月经周期的不同阶段开始卵巢刺激时的灵活性。
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A modified ultra-long pituitary downregulation protocol improved endometrial receptivity and clinical outcome for infertile patients with polycystic ovarian syndrome.一种改良的超长垂体降调节方案改善了多囊卵巢综合征不孕患者的子宫内膜容受性和临床结局。
Exp Ther Med. 2015 Nov;10(5):1865-1870. doi: 10.3892/etm.2015.2769. Epub 2015 Sep 23.
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Investigation of AZF microdeletions in patients with Klinefelter syndrome.克兰费尔特综合征患者的无精子因子微缺失研究。
Genet Mol Res. 2015 Nov 26;14(4):15140-7. doi: 10.4238/2015.November.25.2.
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Testis Development and Fertility Potential in Boys with Klinefelter Syndrome.克兰费尔特综合征男孩的睾丸发育与生育潜力
Endocrinol Metab Clin North Am. 2015 Dec;44(4):843-65. doi: 10.1016/j.ecl.2015.07.008. Epub 2015 Sep 28.
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Outcomes of Micro-Dissection TESE in Patients with Non-Mosaic Klinefelter's Syndrome without Hormonal Treatment.非镶嵌型克兰费尔特综合征患者未经激素治疗的显微解剖睾丸精子提取术的结果
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Andrology. 2014 Jul;2(4):623-31. doi: 10.1111/j.2047-2927.2014.00231.x.
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Success rate of microsurgical multiple testicular sperm extraction and sperm presence in the ejaculate in korean men with y chromosome microdeletions.韩国Y染色体微缺失男性的显微外科多次睾丸精子提取成功率及射精中的精子存在情况
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