Transverse testicular ectopia in a newborn with transposition of the great arteries: A unique case report.

Int J Surg Case Rep

The Queensland Children's Hospital, 501 Stanley Street, South Brisbane, QLD 4101, Australia; The University of Queensland, St Lucia, QLD 4072, Australia.

Published: November 2024

AI Article Synopsis

  • Transverse testicular ectopia (TTE) is a rare congenital condition where both testes and parts of Müllerian organs herniate into a single passage in males with a 46XY karyotype, and it’s often associated with persistent Müllerian duct syndrome (PMDS).
  • The case highlights a 3-day-old newborn male with TTE and a concurrent heart issue called transposition of the great arteries (TGA), where a postnatal ultrasound raised concerns about variations in sexual characteristics.
  • This case is significant as it's the first documented instance of TGA occurring alongside TTE, emphasizing the need for careful diagnosis and interdisciplinary care for optimal outcomes in such rare congenital anomalies.

Article Abstract

Introduction: Transverse testicular ectopia (TTE) is an extremely rare though well-documented congenital anomaly. In males with a 46XY karyotype, it is characterised by the herniation of both testes and part of the Müllerian organs into a single processus vaginalis. TTE is one of the three main clinical presentations of persistent Müllerian duct syndrome (PMDS). Transposition of the great arteries (TGA) is another rare congenital anomaly and severe cardiac condition. We present the likely first reported case of TTE with an accompanying malformation of TGA in a newborn.

Case Presentation: A 3-day-old Caucasian 46XY newborn with TGA was referred to the paediatric surgeons and endocrinologists for possible variations of sex characteristics (VSC). Despite a clinical examination revealing phenotypical male genitalia, an early postnatal ultrasound (US) suggestive of a uterine structure raised the suspicion of VSC. This patient had an arterial switch operation at 2 weeks of age before undergoing an exploration of the left groin at 8 weeks of age. Intraoperative findings revealed bilateral testes either side of a rudimentary uterus with fallopian tubes in the left inguinal canal. To avoid de-vascularising any structures, modified bilateral orchidopexy was performed placing each testis in the respective hemiscrotum with the uterus placed across the scrotal septum.

Conclusion: We present the first reported case of TGA accompanying TTE. Early and accurate diagnosis, combined with the coordinated care by the specialist paediatric surgeon, cardiothoracic team, endocrinologist, and radiologist are essential for delivering timely, optimal care. This unique case raises the possibility of there being a link between TTE and TGA.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490732PMC
http://dx.doi.org/10.1016/j.ijscr.2024.110347DOI Listing

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