Role of Transperineal Ultrasound (TPUS) in Children with Ambiguous Genitalia

Abstract

Objectives Accurate delineation of anatomy in children with ambiguous genitalia early in life is important. This commonly involves conventional fluoroscopic genitogram (traumatic to the child) and magnetic resonance imaging (MRI) examination (involves sedation). In this study, our objectives were twofold: (1) to describe the findings on transperineal ultrasound (TPUS) in normal children and (2) to describe the findings on TPUS in children with ambiguous genitalia and correlate them with conventional genitogram. Materials and Methods TPUS was prospectively performed in 10 children without genital ambiguity (5 girls and 5 boys). Subsequently, 15 consecutive children having disorders of sex differentiation (DSDs) with genital ambiguity underwent TPUS. The presence or absence of müllerian structures was documented. Of these patients, 14 also underwent conventional genitogram as a part of routine evaluation. The gold standard was established either by comparison with surgical findings (in patients who underwent surgery) or by comparison with a combination of findings on genitogram and transabdominal ultrasound in patients who did not undergo surgery. Results In all normal children, lower urogenital tracts could be clearly delineated on TPUS. Out of the 15 children with ambiguous genitalia, TPUS could establish the presence/absence of müllerian structures in 14. This was concordant with findings on conventional genitogram/surgery. In one patient, müllerian structure was missed on TPUS but demonstrated on genitogram. In two children, TPUS showed the müllerian structure, which was not seen on genitogram. When both the controls and the cases were combined, TPUS had an accuracy of 95% and specificity of 100% in the detection of müllerian structures. Conclusion TPUS is feasible and accurate in demonstration of lower urogenital tract anatomy in children with DSDs having ambiguous genitalia. It can be performed without sedation, and is suitable for use as a screening modality in children with ambiguous genitalia.

Paediatric sacrococcygeal teratoma detected by transperineal sonography

“…Transperineal ultrasound has been recently documented for use in neonatal anal positioning, 3 children with ambiguous genitalia, 4 and a variety of other pathologies including posterior urethral valves, imperforate anus, 5 cervical or vaginal atresia, 6 anorectal malformations, and fistula 7,8 …”

“…Transperineal ultrasound has been recently documented for use in neonatal anal positioning, 3 children with ambiguous genitalia, 4 and a variety of other pathologies including posterior urethral valves, imperforate anus, 5 cervical or vaginal atresia, 6 anorectal malformations, and fistula. 7,8 A paediatric renal ultrasound protocol invariably includes transabdominal examination of both kidneys, the bladder, and ureteric region ideally with an 8-5 MHz or 9-2 MHz curvilinear probe.…”

Transperineal Ultrasound as an Adjunctive Modality in the Evaluation of ‘H or N’ Type of Recto-urethral Fistula: Technical Note

“…2 In children, transperineal ultrasound (TPUS) has been used in the evaluation of anorectal malformations, Müllerian anomalies, and disorders of sex differentiation (DSDs). 1 While augmented pressure colostogram is the gold standard for characterization of ARM and MRI is ideal for pelvic floor muscle assessment, TPUS offers a good combination of both these utilities. 4,5 Here we describe the role of transperineal ultrasound as an adjunctive modality in the diagnosis of one such complex anomaly.…”

“…Anorectal malformations (ARMs) encompass a complex spectrum of congenital anomalies involving the distal rectum and anus as well as urinary and or genital systems. 1 H/N type anorectal malformations are extremely rare, usually seen in females. In boys, they are associated with increased rates of major congenital anomalies.…”

“…In children, transperineal ultrasound (TPUS) has been used in the evaluation of anorectal malformations, Müllerian anomalies, and disorders of sex differentiation (DSDs). 1 …”