Evaluation and management of gynecological malformations, disorders of sexual differentiation (DSD), and anorectal malformation can be complex and often requires a multidisciplinary approach. Evaluation of these children includes a thorough physical examination, laboratory tests, imaging, and, occasionally, cystoscopy, vaginoscopy, hysteroscopy, and laparoscopy. A brief description of the embryology of the lower genitourinary tract is provided to understand the pathophysiology and classification of these malformations. Ultrasound should be the primary modality for the evaluation of most gynecologic and DSD pathologies. In more complex cases, a multimodal imaging approach is necessary to delineate the malformation and any associated anomalies. We describe the imaging approach in the diagnosis and management of interlabial masses (introital cysts, imperforate hymen, prolapsed ureterocele, and botryoides rhabdomyosarcoma tumor), internal gynecological abnormalities (vaginal agenesis, abnormalities of vertical fusion, and abnormalities of lateral fusion), DSD (complete androgen insensitivity syndrome, ovotesticular DSD, and urogenital sinus, including congenital adrenal hyperplasia), as well as anorectal anomalies (imperforate anus and cloacal malformation).
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