Persistent Mullerian duct syndrome in a male child: A rare case report on the intersection of surgical importance and economic barriers in Syria.
Case report
Persistent Mullerian duct syndrome
Pseudohermaphroditism
Vagina
Wolffian duct
Journal
International journal of surgery case reports
ISSN: 2210-2612
Titre abrégé: Int J Surg Case Rep
Pays: Netherlands
ID NLM: 101529872
Informations de publication
Date de publication:
18 Sep 2024
18 Sep 2024
Historique:
received:
29
07
2024
revised:
11
09
2024
accepted:
16
09
2024
medline:
20
9
2024
pubmed:
20
9
2024
entrez:
19
9
2024
Statut:
aheadofprint
Résumé
During embryology, the Mullerian duct develops later into the female reproductive tract, and it is usually obliterates in males by anti-Mullerian hormone. Mutations in the gene for anti-Mullerian hormone or anti-Mullerian hormone receptor will cause persistent Mullerian duct syndrome. To the best of our knowledge, this is the first case of this syndrome documented in the medical literature from Syria. Herein, we report a case of a 3-year-old male with external male genitalia, who presented complaining mainly of urinary tract infection symptoms. The ultrasound showed the presence of both Mullerian and Wolffian duct derivatives. In fact, and unfortunately, the main obstacles to complete further investigations in this case were a lack of cooperation from parents and the costs of these investigations. We hope that this case report will make interesting additions to the medical literature. PMDS syndrome is a rare condition characterized by male pseudohermaphroditism, where individuals have male external features but also possess female reproductive organs. Diagnosis often involves imaging techniques like ultrasound and MRI to visualize Mullerian structures. Laboratory tests, including hormone level assessments, are crucial for confirming the diagnosis. Surgical intervention is the primary treatment approach to prevent complications. The most common presentations for PMDS include inguinal hernia, testicular tumors, cryptorchidism, and abdominal tumors. So, when treating an inguinal hernia, especially if there is cryptorchidism, the possibility of PMDD should be considered. Early diagnosis and investigations play a major role in effective management and prevention the complications of this syndrome.
Identifiants
pubmed: 39299204
pii: S2210-2612(24)01096-4
doi: 10.1016/j.ijscr.2024.110315
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
110315Informations de copyright
Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of interest statement The authors declare that they have no competing interests.