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Disorders of Sexual Differentiation, Gynecological, and Anorectal Abnormalities

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Pediatric and Adolescent Urologic Imaging

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Abstract

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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Abbreviations

CAH:

Congenital adrenal hyperplasia

CAIS:

Congenital androgen insensitivity syndrome

CT:

Computed tomography

DSD:

Disorders of sexual differentiation

MRI:

Magnetic resonance imaging

MRKH:

Mayer-Rokitansky-Kuster-Hauser syndrome

PET:

Positron emission tomography

US:

Ultrasound

VACTERL:

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

VCUG:

Voiding cystourethrogram

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Author information

Authors and Affiliations

  1. Pediatric Urology, Riley Hospital for Children at IU Health, 705 Riley Hospital Drive ROC4230, Indianapolis, IN, 46202, USA

    Konrad M. Szymanski MD, MPH & Richard C. Rink MD, FAAP, FACS

  2. Department of Radiology and Imaging Sciences, Riley Hospital for Children at IU Health, 705 Riley Hospital Drive, Suite 1053, Indianapolis, IN, 46202, USA

    Boaz Karmazyn MD

Authors
  1. Konrad M. Szymanski MD, MPH
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  2. Boaz Karmazyn MD
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  3. Richard C. Rink MD, FAAP, FACS
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Corresponding author

Correspondence to Richard C. Rink MD, FAAP, FACS .

Editor information

Editors and Affiliations

  1. Pediatric Urology Department, Cohen Children’s Medical Center of New York, Long Island, New York, USA

    Lane S. Palmer

  2. Pediatric and Adolescent Urology Institute, Cleveland, Ohio, USA

    Jeffrey S. Palmer

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Szymanski, K.M., Karmazyn, B., Rink, R.C. (2014). Disorders of Sexual Differentiation, Gynecological, and Anorectal Abnormalities. In: Palmer, L., Palmer, J. (eds) Pediatric and Adolescent Urologic Imaging. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8654-1_21

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  • DOI: https://doi.org/10.1007/978-1-4614-8654-1_21

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