Clinical case of 45,X/46,XY mosaic male with ejaculatory disorder associated with seminal vesicle dysplasia: a case report.

IF 2.6 3区医学 Q1 MEDICINE, GENERAL & INTERNAL Sexual Medicine Pub Date : 2024-10-01 DOI:10.1093/sexmed/qfae066

Jurii Karibe, Teppei Takeshima, Daiji Takamoto, Takashi Kawahara, Kimito Osaka, Jun-Ichi Teranishi, Kazuhide Makiyama, Hiroji Uemura, Yasushi Yumura

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Abstract

Introduction: 45,X/46,XY mosaicism is a rare anomaly in sexual differentiation, presenting with diverse phenotypes and often leading to infertility due to abnormal gonadal development.

Aims: This report aims to present a case study of a 45,X/46,XY mosaic male patient with an ejaculatory disorder attributed to seminal vesicle dysplasia.

Methods: In this case study, diagnostic procedures encompassed blood tests, semen analysis, chromosomal examination, and imaging studies to assess gonadal morphology. Treatment strategies included attempted varicocelectomy, pharmacological intervention with amoxapine, and surgical testicular sperm extraction. Additionally, the patient underwent assisted reproductive techniques, specifically intracytoplasmic sperm injection (ICSI), to facilitate pregnancy for his wife.

Results: A 32-year-old man could not ejaculate, with post-orgasmic urinalysis revealing minimal sperm presence. Chromosomal analysis confirmed 45,X/46,XY mosaicism. Despite undergoing microsurgical varicocelectomy for clinical varicocele and receiving tricyclic antidepressants, no improvement in semen volume occurred. Imaging studies indicated ejaculatory disorder due to prostate and seminal vesicle aplasia. Consequently, surgical retrieval of testicular sperm was performed, leading to successful pregnancy via ICSI for his wife.

Conclusion: Our approach has effectively addressed ejaculatory disorder in 45,X/46,XY mosaic men, resulting in successful pregnancy.

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45,X/46,XY嵌合型男性射精障碍伴精囊发育不良的临床病例：病例报告。

简介：45,X/46,XY 嵌合体是一种罕见的性分化异常：45,X/46,XY嵌合体是一种罕见的性分化异常，表现为多种表型，往往因性腺发育异常而导致不育。目的：本报告旨在介绍一例45,X/46,XY嵌合体男性患者的病例研究，该患者因精囊发育不良而导致射精障碍：在该病例研究中，诊断程序包括血液化验、精液分析、染色体检查以及评估性腺形态的成像研究。治疗策略包括尝试进行精索静脉曲张切除术、使用阿莫沙平进行药物干预和手术提取睾丸精子。此外，患者还接受了辅助生殖技术，特别是卵胞浆内单精子显微注射（ICSI），以帮助妻子怀孕：一名 32 岁的男子无法射精，性高潮后的尿检显示精子极少。染色体分析证实了 45,X/46,XY 嵌合。尽管因临床精索静脉曲张接受了显微外科精索静脉曲张切除术，并服用了三环类抗抑郁药，但精液量仍无改善。影像学检查显示，前列腺和精囊增生导致射精障碍。因此，他接受了睾丸取精手术，并通过卵胞浆内单精子显微注射（ICSI）成功为妻子怀孕：结论：我们的方法有效地解决了45,X/46,XY嵌合型男性的射精障碍问题，使他们成功怀孕。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Sexual Medicine MEDICINE, GENERAL & INTERNAL-

CiteScore

5.40

自引率

0.00%

发文量

103

审稿时长

22 weeks

期刊介绍： Sexual Medicine is an official publication of the International Society for Sexual Medicine, and serves the field as the peer-reviewed, open access journal for rapid dissemination of multidisciplinary clinical and basic research in all areas of global sexual medicine, and particularly acts as a venue for topics of regional or sub-specialty interest. The journal is focused on issues in clinical medicine and epidemiology but also publishes basic science papers with particular relevance to specific populations. Sexual Medicine offers clinicians and researchers a rapid route to publication and the opportunity to publish in a broadly distributed and highly visible global forum. The journal publishes high quality articles from all over the world and actively seeks submissions from countries with expanding sexual medicine communities. Sexual Medicine relies on the same expert panel of editors and reviewers as The Journal of Sexual Medicine and Sexual Medicine Reviews.