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一种新的临床表现:无阴茎、膀胱输尿管反流、直肠膀胱瘘和肾上腺功能不全。

A New Presentation: Aphallia, Vesicoureteral Reflux, Rectovesical Fistula, and Adrenal Insufficiency.

作者信息

El Qadiry R, Lalaoui A, Nassih H, Bourrahouat A, Ait Sab I

机构信息

Pediatric B Department-Mother-Child Pole, Mohammed VI University Hospital, Marrakesh, Morocco.

出版信息

Case Rep Pediatr. 2020 Nov 23;2020:8826520. doi: 10.1155/2020/8826520. eCollection 2020.

DOI:10.1155/2020/8826520
PMID:33299630
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7704127/
Abstract

Aphallia or penile agenesis is a rare congenital malformation with an estimated incidence rate of 1 in 10 to 30 million births. More than half of aphallia cases have associated anomalies including caudal axis, cardiovascular, genitourinary, and gastrointestinal anomalies. The penile agenesis associated with adrenal insufficiency has never been reported in an infant. We report a rare case of a newborn that was diagnosed as a case of aphallia with vesicorectal fistula and vesicoureteral reflux, complicated by adrenal insufficiency with salt-wasting crisis.

摘要

无阴茎畸形或阴茎发育不全是一种罕见的先天性畸形,估计发病率为每1000万至3000万例出生中有1例。超过一半的无阴茎畸形病例伴有相关异常,包括尾轴、心血管、泌尿生殖系统和胃肠道异常。婴儿期与肾上腺功能不全相关的阴茎发育不全此前尚未见报道。我们报告了1例罕见的新生儿病例,该患儿被诊断为无阴茎畸形伴膀胱直肠瘘和膀胱输尿管反流,并并发肾上腺功能不全伴失盐危象。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e0a/7704127/e9ba9b657302/CRIPE2020-8826520.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e0a/7704127/187ca2dd6c0d/CRIPE2020-8826520.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e0a/7704127/334e6c96f86b/CRIPE2020-8826520.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e0a/7704127/e9ba9b657302/CRIPE2020-8826520.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e0a/7704127/187ca2dd6c0d/CRIPE2020-8826520.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e0a/7704127/334e6c96f86b/CRIPE2020-8826520.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e0a/7704127/e9ba9b657302/CRIPE2020-8826520.003.jpg

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本文引用的文献

1
A rare presentation: Penile agenesis, vesicoureteral reflux, and rectovesical fistula in a newborn.
Urol Case Rep. 2019 Apr 19;25:100895. doi: 10.1016/j.eucr.2019.100895. eCollection 2019 Jul.
2
Congenital absence of the penis (aphallia): A rare case report.先天性阴茎缺如(无阴茎症):一例罕见病例报告。
Medicine (Baltimore). 2019 Apr;98(15):e15129. doi: 10.1097/MD.0000000000015129.
3
Aphallia: A Very Rare Congenital Anomaly, With Associated Genitourinary And Ano-Rectal Malformation.无阴茎畸形:一种极为罕见的先天性异常,伴有相关的泌尿生殖系统及肛门直肠畸形。
J Ayub Med Coll Abbottabad. 2018 Apr-Jun;30(2):275-277.
4
A case report of aphallia with urorectal septum malformation sequence in a newborn: a very rarely seen condition.新生儿无阴茎合并尿直肠隔畸形序列征一例报告:一种极为罕见的病症。
Int Med Case Rep J. 2015 Dec 4;8:317-20. doi: 10.2147/IMCRJ.S92122. eCollection 2015.
5
A rare case of aphallia with right kidney hypoplasia and left kidney dysplasia.一例罕见的无阴茎畸形合并右肾发育不全及左肾发育异常。
Arch Iran Med. 2015 Apr;18(4):257-9.
6
Agenesis of penis. Embryology and management.阴茎缺如。胚胎学与处理
Urology. 1973 Mar;1(3):226-9. doi: 10.1016/0090-4295(73)90741-3.