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

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.