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

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 wer...

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Autores principales: Gupta, Rahul K., Tiwari, Pooja, Parelkar, Sandesh V., Sanghvi, Beejal V., Mudkhedkar, Kedar P., Mhaskar, Satej S., Shah, Rujuta S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9350634/
https://www.ncbi.nlm.nih.gov/pubmed/35937130
http://dx.doi.org/10.4103/jiaps.JIAPS_352_20
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author Gupta, Rahul K.
Tiwari, Pooja
Parelkar, Sandesh V.
Sanghvi, Beejal V.
Mudkhedkar, Kedar P.
Mhaskar, Satej S.
Shah, Rujuta S.
author_facet Gupta, Rahul K.
Tiwari, Pooja
Parelkar, Sandesh V.
Sanghvi, Beejal V.
Mudkhedkar, Kedar P.
Mhaskar, Satej S.
Shah, Rujuta S.
author_sort Gupta, Rahul K.
collection PubMed
description 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.
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spelling pubmed-93506342022-08-05 An Unusual Case of Type A Posterior Cloaca Associated with 46XX Disorder of Sexual Differentiation with Y Duplication of Urethra Gupta, Rahul K. Tiwari, Pooja Parelkar, Sandesh V. Sanghvi, Beejal V. Mudkhedkar, Kedar P. Mhaskar, Satej S. Shah, Rujuta S. J Indian Assoc Pediatr Surg Case Report 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. Wolters Kluwer - Medknow 2022 2022-03-01 /pmc/articles/PMC9350634/ /pubmed/35937130 http://dx.doi.org/10.4103/jiaps.JIAPS_352_20 Text en Copyright: © 2022 Journal of Indian Association of Pediatric Surgeons https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Gupta, Rahul K.
Tiwari, Pooja
Parelkar, Sandesh V.
Sanghvi, Beejal V.
Mudkhedkar, Kedar P.
Mhaskar, Satej S.
Shah, Rujuta S.
An Unusual Case of Type A Posterior Cloaca Associated with 46XX Disorder of Sexual Differentiation with Y Duplication of Urethra
title An Unusual Case of Type A Posterior Cloaca Associated with 46XX Disorder of Sexual Differentiation with Y Duplication of Urethra
title_full An Unusual Case of Type A Posterior Cloaca Associated with 46XX Disorder of Sexual Differentiation with Y Duplication of Urethra
title_fullStr An Unusual Case of Type A Posterior Cloaca Associated with 46XX Disorder of Sexual Differentiation with Y Duplication of Urethra
title_full_unstemmed An Unusual Case of Type A Posterior Cloaca Associated with 46XX Disorder of Sexual Differentiation with Y Duplication of Urethra
title_short An Unusual Case of Type A Posterior Cloaca Associated with 46XX Disorder of Sexual Differentiation with Y Duplication of Urethra
title_sort unusual case of type a posterior cloaca associated with 46xx disorder of sexual differentiation with y duplication of urethra
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9350634/
https://www.ncbi.nlm.nih.gov/pubmed/35937130
http://dx.doi.org/10.4103/jiaps.JIAPS_352_20
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