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先天性阴囊发育不全伴双侧隐睾:一例报告

Congenital scrotal agenesis with bilateral cryptorchidism: a case report.

作者信息

Sediqi Mohammad Sharif, Wali Abdulwali, Habib Khatera, Ekram Khesrow, Wali Abdulhai

机构信息

Department of Pediatrics, Maiwand Teaching Hospital, Kabul University of Medical Sciences, Kabul, Afghanistan.

Department of Dermatology, Kabul University of Medical Sciences, Kabul, Afghanistan.

出版信息

J Med Case Rep. 2025 May 6;19(1):211. doi: 10.1186/s13256-025-05218-x.

DOI:10.1186/s13256-025-05218-x
PMID:40329338
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12056986/
Abstract

BACKGROUND

The disorder known as congenital scrotal agenesis is an extremely rare condition. In the literature, 11 cases of congenital scrotal agenesis or absence have been reported thus far. Most of them are bilateral and contain cryptorchidism. In a rare case of bilateral cryptorchidism, we report a 36-day-old Afghan infant who presented to Maiwand Teaching Hospital with fever and vomiting due to infection and congenital scrotal agenesis. The diagnosis of these anomalies was made using clinical and laboratory results, with the clinical characteristics being recorded during the sixth week of life. After receiving therapy for sepsis, he was referred to the pediatric surgical department in good health. Given that the parents of the congenital scrotal agenesis reference case were consanguineous, there may have been a genetic component to the development of the condition.

CASE PRESENTATION

We describe a rare instance of bilateral cryptorchidism, with congenital scrotal agenesis in a 36-day-old Afghan baby that had come to Maiwand teaching hospital for fever and vomiting on the basis of sepsis. The clinical characteristics were noted during the sixth week of life and clinical and laboratory results were used to determine the diagnosis of these anomalies. He was referred to the pediatric surgery department in good health following the treatment for sepsis. Given that the reference case of congenital scrotal agenesis had consanguineous parents, a link to genetics may have contributed to the disease's emergence.

CONCLUSION

Congenital scrotal agenesis is an incredibly uncommon condition of urological congenital disorder. To date, the literature has reported 11 cases of congenital scrotal agenesis or absence, most of which are bilateral and involve cryptorchidism. This case presents another human being that suffers congenitally from scrotal agenesis with bilateral cryptorchidism who was born in Kabul city of Afghanistan from a multigravida mother who has positive consanguinity to her husband.

摘要

背景

先天性阴囊发育不全是一种极为罕见的病症。迄今为止,文献中已报道了11例先天性阴囊发育不全或缺失的病例。其中大多数为双侧性且伴有隐睾症。在一例罕见的双侧隐睾症病例中,我们报告了一名36天大的阿富汗婴儿,因感染和先天性阴囊发育不全,出现发热和呕吐症状,就诊于迈万德教学医院。通过临床和实验室检查结果做出了这些异常情况的诊断,临床特征记录于婴儿出生后第六周。在接受败血症治疗后,他被转至儿科外科,当时身体状况良好。鉴于先天性阴囊发育不全参考病例的父母为近亲结婚,该病症的发生可能存在遗传因素。

病例介绍

我们描述了一例罕见的双侧隐睾症病例,一名36天大的阿富汗婴儿患有先天性阴囊发育不全,因败血症导致发热和呕吐前来迈万德教学医院就诊。临床特征在出生后第六周被记录下来,并通过临床和实验室检查结果来确定这些异常情况的诊断。在接受败血症治疗后,他被转至儿科外科,当时身体状况良好。鉴于先天性阴囊发育不全参考病例的父母为近亲结婚,遗传因素可能促使了该疾病的出现。

结论

先天性阴囊发育不全是一种极其罕见的泌尿系统先天性疾病。迄今为止,文献中已报道了11例先天性阴囊发育不全或缺失的病例,其中大多数为双侧性且伴有隐睾症。该病例呈现了另一名患有先天性阴囊发育不全伴双侧隐睾症的患者,其出生于阿富汗喀布尔市,母亲为经产妇,与丈夫为近亲结婚。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7d8/12056986/3a8befc99477/13256_2025_5218_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7d8/12056986/3a8befc99477/13256_2025_5218_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7d8/12056986/3a8befc99477/13256_2025_5218_Fig1_HTML.jpg

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本文引用的文献

1
Unilateral congenital scrotal agenesis with ipsilateral cryptorchidism: A case report.单侧先天性阴囊发育不全伴同侧隐睾:一例报告。
World J Clin Cases. 2019 Nov 26;7(22):3807-3811. doi: 10.12998/wjcc.v7.i22.3807.
2
Complete Scrotal Agenesis: New Surgical Approach Using Self-inflating Tissue Expander.完全性阴囊缺如:使用自膨胀组织扩张器的新手术方法
Urology. 2018 Feb;112:169-171. doi: 10.1016/j.urology.2017.10.015. Epub 2017 Dec 6.
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Resurfacing the Penis of Complex Hypospadias Repair ("Hypospadias Cripples").阴茎复杂型尿道下裂修复术(“尿道下裂残障”)的再造。
J Urol. 2017 Mar;197(3 Pt 2):859-864. doi: 10.1016/j.juro.2016.09.075. Epub 2017 Jan 26.
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Congenital agenesis of scrotum and labia majora in siblings.先天性阴囊和大阴唇发育不全,发生于同一家族的两兄妹。
Urology. 2013 Feb;81(2):421-3. doi: 10.1016/j.urology.2012.10.019.
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Congenital hemiscrotal agenesis: report of a rare entity.先天性单侧阴囊发育不全:一种罕见实体的报告。
J Pediatr Urol. 2013 Feb;9(1):e76-7. doi: 10.1016/j.jpurol.2012.09.005. Epub 2012 Oct 6.
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Hemiscrotal agenesis: new variation in a rare anomaly.单侧性阴囊发育不全:一种罕见异常的新变异。
Urology. 2012 Jan;79(1):210-1. doi: 10.1016/j.urology.2011.05.022. Epub 2011 Aug 5.
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Topical testosterone in scrotal agenesis.阴囊发育不全中的局部睾酮治疗。
Pediatr Surg Int. 2006 Jun;22(6):565-6. doi: 10.1007/s00383-006-1659-y. Epub 2006 Mar 4.
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Congenital scrotal agenesis: description of a rare anomaly and management strategies.先天性阴囊发育不全:一种罕见异常的描述及治疗策略
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Agenesis of the scrotum.阴囊发育不全
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Congenital absence of the scrotum: case report and description of an original technique of construction of a scrotum.先天性阴囊缺如:病例报告及阴囊构建新技术描述
J Pediatr Surg. 1993 Feb;28(2):264-6. doi: 10.1016/s0022-3468(05)80291-x.