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与膀胱外翻相关的双阴茎畸形的产前诊断:一例报告。

Prenatal diagnosis of diphallia in association with bladder exstrophy: a case report.

机构信息

Maternal-fetal medicine Research Center, Department of Obstetrics and Gynecology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

BMC Pregnancy Childbirth. 2022 May 24;22(1):435. doi: 10.1186/s12884-022-04746-4.

Abstract

BACKGROUND

Penile duplication or diphallia is a rare congenital anomaly with unclear pathophysiological cause. Most cases of diphallia are reported postnatally; however, today with the use of a high-resolution ultrasound device, in-uterine diagnosis of many congenital anomalies is possible.

CASE PRESENTATION

Herein we report a multiparous mother at 25 weeks of gestation who referred due to an abnormal cystic structure protruding from a large abdominal wall defect located below the umbilicus that was noted during a routine exam. Target scan revealed two penile-like protrusions with an empty scrotal sac and double bladder in an otherwise normal fetus, which was confirmed postnatally. Neonatal microarray study and karyotype were normal.

CONCLUSION

Diphallia could be detected prenatally as an isolated anomaly, associated with caudal duplication syndrome, or as an exstrophy-epispadias complex. As this is a rare congenital anomaly, all sonographers should be familiar with prenatal ultrasound features and associated anomalies, an important issue in prenatal counseling with parents, delivery planning, psychological support of the family, and postnatal management.

摘要

背景

阴茎重复或双阴茎是一种罕见的先天性异常,其病理生理原因尚不清楚。大多数双阴茎病例是在出生后报告的;然而,如今随着高分辨率超声设备的使用,许多先天性异常在子宫内即可诊断。

病例介绍

本病例报告了一位多产妇,在 25 孕周时因常规检查中发现位于脐以下腹壁大缺损处有一个异常的囊性结构突出而就诊。靶扫描显示,除了一个正常的胎儿外,还有两个类似阴茎的突起,伴有一个空的阴囊和双膀胱,这一发现得到了产后证实。新生儿微阵列研究和染色体核型均正常。

结论

双阴茎可作为孤立性异常、与尾部重复综合征或外胚层-尿道上裂复合体一起在产前被检测到。由于这是一种罕见的先天性异常,所有超声医师都应熟悉产前超声特征和相关异常,这是产前咨询中与父母、分娩计划、家庭心理支持和产后管理相关的重要问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bebb/9131630/3128544fec60/12884_2022_4746_Fig1_HTML.jpg

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