Disorders of Sexual Differentiation, Gynecological, and Anorectal Abnormalities

  • Konrad M. Szymanski
  • Boaz Karmazyn
  • Richard C. Rink


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).


Lateral Fusion Urogenital Sinus Urethral Meatus Primary Amenorrhea Distended Vagina 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Congenital adrenal hyperplasia


Congenital androgen insensitivity syndrome


Computed tomography


Disorders of sexual differentiation


Magnetic resonance imaging


Mayer-Rokitansky-Kuster-Hauser syndrome


Positron emission tomography




Vertebral abnormalities anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal abnormalities, and limb defects


Voiding cystourethrogram


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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Konrad M. Szymanski
    • 1
  • Boaz Karmazyn
    • 2
  • Richard C. Rink
    • 1
  1. 1.Pediatric UrologyRiley Hospital for Children at IU HealthIndianapolisUSA
  2. 2.Department of Radiology and Imaging SciencesRiley Hospital for Children at IU HealthIndianapolisUSA

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