A Mayer-Rokitansky-Kuster-Hauser Syndrome in a Neonate: A Case Report

Background: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is defined as the congenital incomplete development of Müllerian structures in women who otherwise have the phenotype with a normal karyotype (46, XX), normal external genitalia, and functional ovaries. We present the case of a neonate admit...

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Main Authors: Nasrin Khalesi, Mandana Kashaki, Nastaran Khosravi, Zahra Vahedi, Mona Alinejad-Naeini
Format: Article
Language:English
Published: Mashhad University of Medical Sciences 2025-04-01
Series:Iranian Journal of Neonatology
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Online Access:https://ijn.mums.ac.ir/article_25784_804aad5008b9e07119effc0723bd27cb.pdf
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author Nasrin Khalesi
Mandana Kashaki
Nastaran Khosravi
Zahra Vahedi
Mona Alinejad-Naeini
author_facet Nasrin Khalesi
Mandana Kashaki
Nastaran Khosravi
Zahra Vahedi
Mona Alinejad-Naeini
author_sort Nasrin Khalesi
collection DOAJ
description Background: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is defined as the congenital incomplete development of Müllerian structures in women who otherwise have the phenotype with a normal karyotype (46, XX), normal external genitalia, and functional ovaries. We present the case of a neonate admitted with features of MRKH syndrome.Case Report: We present a female neonate with a gestational age of 37 weeks and two days with a birth weight of 2650 grams who was admitted to the hospital. Fistulography radiology was performed for the baby in such a way that water-soluble contrast material was used. The baby was discharged with good general condition, normal tests, and stable hemodynamics vesicostomy.Conclusion: MRKH syndrome is a very heterogeneous phenotypic and genetic disorder. Although more information is still needed about the etiology and management of MRKH, progress has been made in the past decades regarding efficient diagnostic methods and appropriate medical management.
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publishDate 2025-04-01
publisher Mashhad University of Medical Sciences
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series Iranian Journal of Neonatology
spelling doaj-art-eb33e443372f4d868c527a9d982b5d5e2025-08-20T03:34:37ZengMashhad University of Medical SciencesIranian Journal of Neonatology2251-75102322-21582025-04-01162535810.22038/ijn.2025.72592.240725784A Mayer-Rokitansky-Kuster-Hauser Syndrome in a Neonate: A Case ReportNasrin Khalesi0Mandana Kashaki1Nastaran Khosravi2Zahra Vahedi3Mona Alinejad-Naeini4Department of Neonatology, Aliasghar Children's Hospital, School of Medicine, Iran University of Medical Sciences, Tehran, IranShahid Akbarabadi Clinical Research Development Unit, Iran University of Medical Science, Tehran, IranDepartment of Neonatology, Aliasghar Children's Hospital, School of Medicine, Iran University of Medical Sciences, Tehran, IranDepartment of Neonatology, Aliasghar Children's Hospital, School of Medicine, Iran University of Medical Sciences, Tehran, IranPediatric and Intensive Neonatal Nursing Department, School of Nursing and Midwifery, Iran University of Medical Sciences, Tehran, IranBackground: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is defined as the congenital incomplete development of Müllerian structures in women who otherwise have the phenotype with a normal karyotype (46, XX), normal external genitalia, and functional ovaries. We present the case of a neonate admitted with features of MRKH syndrome.Case Report: We present a female neonate with a gestational age of 37 weeks and two days with a birth weight of 2650 grams who was admitted to the hospital. Fistulography radiology was performed for the baby in such a way that water-soluble contrast material was used. The baby was discharged with good general condition, normal tests, and stable hemodynamics vesicostomy.Conclusion: MRKH syndrome is a very heterogeneous phenotypic and genetic disorder. Although more information is still needed about the etiology and management of MRKH, progress has been made in the past decades regarding efficient diagnostic methods and appropriate medical management.https://ijn.mums.ac.ir/article_25784_804aad5008b9e07119effc0723bd27cb.pdfneonateneonatal intensive care unitmayer-rokitansky-kuster-hausersyndrome
spellingShingle Nasrin Khalesi
Mandana Kashaki
Nastaran Khosravi
Zahra Vahedi
Mona Alinejad-Naeini
A Mayer-Rokitansky-Kuster-Hauser Syndrome in a Neonate: A Case Report
Iranian Journal of Neonatology
neonate
neonatal intensive care unit
mayer-rokitansky-kuster-hauser
syndrome
title A Mayer-Rokitansky-Kuster-Hauser Syndrome in a Neonate: A Case Report
title_full A Mayer-Rokitansky-Kuster-Hauser Syndrome in a Neonate: A Case Report
title_fullStr A Mayer-Rokitansky-Kuster-Hauser Syndrome in a Neonate: A Case Report
title_full_unstemmed A Mayer-Rokitansky-Kuster-Hauser Syndrome in a Neonate: A Case Report
title_short A Mayer-Rokitansky-Kuster-Hauser Syndrome in a Neonate: A Case Report
title_sort mayer rokitansky kuster hauser syndrome in a neonate a case report
topic neonate
neonatal intensive care unit
mayer-rokitansky-kuster-hauser
syndrome
url https://ijn.mums.ac.ir/article_25784_804aad5008b9e07119effc0723bd27cb.pdf
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