A Case of Persistent Urogenital Sinus: Pitfalls and challenges in diagnosis

Abstract

Persistent urogenital sinus (PUGS) is a rare anomaly whereby the urinary and genital tracts fail to separate during embryonic development. We report a three-year-old female child who was referred to the Sabah Women & Children Hospital, Sabah, Malaysia, in 2016 with a pelvic mass. She had been born prematurely at 36 gestational weeks via spontaneous vaginal delivery in 2013 and initially misdiagnosed with neurogenic bladder dysfunction. The external genitalia appeared normal and an initial sonogram and repeat micturating cystourethrograms did not indicate any urogenital anomalies. She therefore underwent clean intermittent catheterisation. Three years later, the diagnosis was corrected following the investigation of a persistent cystic mass posterior to the bladder. At this time, a clinical examination of the perineum showed a single opening into the introitus. Magnetic resonance imaging of the pelvis revealed gross hydrocolpos and a genitogram confirmed a diagnosis of PUGS, for which the patient underwent surgical separation of the urinary and genital tracts.

Perinatal diagnosis of congenital urogenital sinus abnormality

“…Indeed, when external genitalia look normal and the anus is normally placed, these anomalies can be easily overlooked. However, a high index of suspicion for urogenital sinus anomalies is mandatory among patients with pelvic cystic masses, hydrometrocolpos and a single anterior opening in the vestibulum (as in the present case), which is a pathognomonic feature 7,16 . Given that urogenital sinus anomalies may be associated to many entities, it is necessary a combined strategy of clinical examination, laboratory tests (karyotype and hormonal tests), and imaging tools to orient the diagnosis and the therapeutic approach.…”

“…However, a high index of suspicion for urogenital sinus anomalies is mandatory among patients with pelvic cystic masses, hydrometrocolpos and a single anterior opening in the vestibulum (as in the present case), which is a pathognomonic feature. 7,16 Given that urogenital sinus anomalies may be associated to many entities, it is necessary a combined strategy of clinical examination, laboratory tests (karyotype and hormonal tests), and imaging tools to orient the diagnosis and the therapeutic approach. Although prenatal diagnosis of these anomalies may be performed, the prenatal findings need always to be confirmed postnatally.…”

Urogenital Sinus with Mitrofanoff Procedure: Case Review

“…Between the 8th and 12th gestational weeks, the Mullerian ducts migrate caudally from the Mullerian tubercle to the vestibule. 2 Urogenital sinus occurs as a result of the arrested migration of the Mullerian ducts from the Muller tubercle to the vestibule. 3…”