EC Clinical and Medical Case Reports

Persistent urogenital sinus (PUGS) is a rare congenital anomaly where the urogenital sinus fails to separate into distinct urinary and genital passages, resulting in a single common passage for both the urethra and vagina in female neonates. PUGS is most commonly associated with disorders of sex development. We report the case of a three-year-old female, with normal external genitalia, who presented with recurrent urinary tract infections and abdominal distension. She was ultimately diagnosed with PUGS complicated by hydroureteronephrosis. A cutaneous vesicostomy was done to decompress the hydroureteronephrosis followed by total urogenital sinus mobilization (TUM) to correct the congenital anomaly. The report discusses the diagnostic challenges, emphasizing the importance of timely intervention. It explores the embryological basis of PUGS, its diverse clinical presentations and the surgical approaches for correcting this anomaly and restoring normal urinary and genital anatomy. The rarity of isolated PUGS underscores the need for heightened clinical awareness in pediatric patients with unusual urinary symptoms. Early diagnosis and intervention are crucial to prevent complications associated with this congenital anomaly.

 Keywords: Persistent Urogenital Sinus (PUGS); Total Urogenital Sinus Mobilization (TUM); Vesicostomy; Urogenital Sinus Malformations (USM)

1. Amer MI. “A rare case of persistent urogenital sinus in an adult woman associated with unilateral rudimentary horn with ipsilateral renal agenesis and contralateral dermoid cyst”. Iberoamerican Journal of Medicine3 (2021): 280-283.
2. Singh S., et al. “Persistent Urogenital Sinus”. Journal of the Anatomical Society of India2 (2010): 242-244.
3. David F M Thomas. “The embryology of persistent cloaca and urogenital sinus malformations – PMC”. Asian Journal of Andrology2 (2020): 124-128.
4. Ding Y., et al. “Urogenital sinus malformation: From development to management”. Intractable and Rare Diseases Research2 (2023): 78-87.
5. Tan HH., et al. “A Case of Persistent Urogenital Sinus”. Sultan Qaboos University Medical Journal4 (2017): e455-e459.
6. Valentini AL., et al. “Persistent Urogenital Sinus: Diagnostic Imaging for Clinical Management. What Does the Radiologist Need to Know?” American Journal of Perinatology5 (2016): 425-432.
7. Ruggeri G., et al. “Vaginal malformations: a proposed classification based on embryological, anatomical and clinical criteria and their surgical management (an analysis of 167 cases)”. Pediatric Surgery International8 (2012): 797-803.
8. Nigam A., et al. “Fetal ascites and hydrometrocolpos due to persistent urogenital sinus and cloaca: a rare congenital anomaly and review of literature”. BMJ Case Reports (2014): bcr2013202231.
9. Camanni D., et al. “Isolated Fetal Ascites Secondary to Persistent Urogenital Sinus”. Obstetrics and Gynecology International (2009): 219010.
10. Loganathan P., et al. “Urinary ascites due to persistent urogenital sinus: A case report and review of literature”. Journal of Neonatal-Perinatal Medicine1 (2014): 75-79.
11. Kumar S., et al. “Persistent Urogenital Sinus with Ambiguous Genitalia and Urethral Duplication in a Pubertal Female”. Journal of Indian Association of Pediatric Surgeons5 (2022): 610-612.
12. Aa A and Sa M. “The cloacal anomalies: Anatomical insights through a complex spectrum”. Journal of Pediatric Surgery10 (2019): 2004-2011.
13. , et al. “Molecular analysis of coordinated bladder and urogenital organ formation by Hedgehog signaling”. Development (Cambridge, England) Journal 134.3 (2007).
14. Thotakura R and Anjum F. “Hydronephrosis and Hydroureter”. In: Stat Pearls. Treasure Island (FL): Stat Pearls Publishing (2023).