Rangarajan Krithika, Jana Manisha, Wadgera Nagesh, Gupta Arun Kumar, Bajpai Minu, Kandasamy Devasenathipathy
Department of Radiology, All India Institute of Medical Sciences, New Delhi, India.
Department of Paediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.
Indian J Radiol Imaging. 2021 Jan;31(1):49-56. doi: 10.1055/s-0041-1729123. Epub 2021 Apr 17.
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. 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. 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. 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.
在生命早期准确描绘两性畸形患儿的解剖结构非常重要。这通常涉及传统的荧光透视泌尿生殖造影（对患儿有创伤）和磁共振成像（MRI）检查（需要镇静）。在本研究中，我们有两个目标：（1）描述正常儿童经会阴超声（TPUS）的检查结果；（2）描述两性畸形患儿的TPUS检查结果，并将其与传统泌尿生殖造影结果进行关联。
对10名无生殖器异常的儿童（5名女孩和5名男孩）前瞻性地进行了TPUS检查。随后，对15名连续患有性发育障碍（DSD）且生殖器异常的儿童进行了TPUS检查。记录苗勒管结构的有无。其中14名患者还接受了传统泌尿生殖造影作为常规评估的一部分。通过与手术结果（接受手术的患者）进行比较，或与未接受手术患者的泌尿生殖造影和经腹超声检查结果相结合来建立金标准。
在所有正常儿童中，TPUS能够清晰描绘下尿路生殖系统。在15名两性畸形患儿中，TPUS能够确定14名患儿苗勒管结构的有无。这与传统泌尿生殖造影/手术结果一致。1例患者TPUS未发现苗勒管结构，但泌尿生殖造影显示有。2例患儿TPUS显示有苗勒管结构，而泌尿生殖造影未发现。将对照组和病例组合并后，TPUS检测苗勒管结构的准确率为95%，特异性为100%。
TPUS在显示生殖器异常的DSD患儿下尿路生殖系统解剖结构方面是可行且准确的。它无需镇静即可进行，适合作为两性畸形患儿的筛查方式。
