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一例罕见的A型后泄殖腔合并46XX性分化障碍伴尿道Y染色体重复病例。

An Unusual Case of Type A Posterior Cloaca Associated with 46XX Disorder of Sexual Differentiation with Y Duplication of Urethra.

作者信息

Gupta Rahul K, Tiwari Pooja, Parelkar Sandesh V, Sanghvi Beejal V, Mudkhedkar Kedar P, Mhaskar Satej S, Shah Rujuta S

机构信息

Department of Pediatric Surgery, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.

出版信息

J Indian Assoc Pediatr Surg. 2022 Mar-Apr;27(2):251-254. doi: 10.4103/jiaps.JIAPS_352_20. Epub 2022 Mar 1.

DOI:10.4103/jiaps.JIAPS_352_20
PMID:35937130
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9350634/
Abstract

We report an infant reared as a girl who presented with ambiguous genitalia and urine coming per rectum. On examination, she had minimal clitoromegaly with labial fusion and Y urethral duplication. On investigations, genetic, metabolic, and endocrine causes for disorder of sexual differentiation were ruled out. This girl was operated via a posterior sagittal approach. This case was unique in that the urogenital sinus was deviated posteriorly and opened in the anterior rectal wall and the accessory urethra opened in clitoris, along with ambiguity of external genitalia, thus making it a rare variant of the posterior cloaca. The diagnosis requires a high index of suspicion in clinician and a meticulous examination of the external genitalia. Very little literature is available for this rare anomaly. Few reports have classified them as female pseudohermaphroditism with cloacal and urogenital sinus defects. Hence, we hereby discuss and review the literature for previously reported cases.

摘要

我们报告了一名自幼被当作女孩抚养的婴儿，其出现生殖器模糊不清且尿液经直肠排出的情况。检查发现，她有轻微阴蒂肥大、阴唇融合以及Y型尿道重复畸形。经过检查，排除了性分化障碍的遗传、代谢和内分泌原因。该女孩通过后矢状入路进行了手术。此病例的独特之处在于泌尿生殖窦向后偏移并开口于直肠前壁，副尿道开口于阴蒂，同时伴有外生殖器模糊不清，因此使其成为后泄殖腔的一种罕见变异。诊断需要临床医生高度怀疑并对外部生殖器进行细致检查。关于这种罕见异常的文献非常少。很少有报告将它们归类为伴有泄殖腔和泌尿生殖窦缺陷的女性假两性畸形。因此，我们在此讨论并回顾先前报道病例的文献。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4221/9350634/387aebf24804/JIAPS-27-251-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4221/9350634/687b51326b7c/JIAPS-27-251-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4221/9350634/a82fcc1f282e/JIAPS-27-251-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4221/9350634/49f83eb52b8b/JIAPS-27-251-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4221/9350634/96a1f666313e/JIAPS-27-251-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4221/9350634/387aebf24804/JIAPS-27-251-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4221/9350634/687b51326b7c/JIAPS-27-251-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4221/9350634/a82fcc1f282e/JIAPS-27-251-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4221/9350634/49f83eb52b8b/JIAPS-27-251-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4221/9350634/96a1f666313e/JIAPS-27-251-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4221/9350634/387aebf24804/JIAPS-27-251-g005.jpg

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Persistent cloaca and phallic urethra.持续性泄殖腔和阴茎尿道。
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