Disorders of Sexual Differentiation, Gynecological, and Anorectal Abnormalities

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

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).

Keywords

Catheter Estrogen Sarcoma Androgen Estradiol 

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

References

  1. 1.
    Chavhan GB, et al. Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics. 2008;28(7):1891–904.PubMedCrossRefGoogle Scholar
  2. 2.
    Garel L. Abnormal sex differentiation: who, how and when to image. Pediatr Radiol. 2008;38 Suppl 3:S508–11.PubMedCrossRefGoogle Scholar
  3. 3.
    Moshiri M, et al. Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics. 2012;32(6):1599–618.PubMedCrossRefGoogle Scholar
  4. 4.
    Al-Alwan I, et al. Clinical utility of adrenal ultrasonography in the diagnosis of congenital adrenal hyperplasia. J Pediatr. 1999;135(1):71–5.PubMedCrossRefGoogle Scholar
  5. 5.
    Cohen HL, et al. Normal ovaries in neonates and infants: a sonographic study of 77 patients 1 day to 24 months old. AJR Am J Roentgenol. 1993;160(3):583–6.PubMedCrossRefGoogle Scholar
  6. 6.
    Secaf E, et al. Role of MRI in the evaluation of ambiguous genitalia. Pediatr Radiol. 1994;24(4):231–5.PubMedCrossRefGoogle Scholar
  7. 7.
    Gambino J, et al. Congenital disorders of sexual differentiation: MR findings. AJR Am J Roentgenol. 1992;158(2):363–7.PubMedCrossRefGoogle Scholar
  8. 8.
    Kanemoto K, et al. Accuracy of ultrasonography and magnetic resonance imaging in the diagnosis of non-palpable testis. Int J Urol. 2005;12(7):668–72.PubMedCrossRefGoogle Scholar
  9. 9.
    Fedele L, et al. Magnetic resonance imaging in Mayer-Rokitansky-Kuster-Hauser syndrome. Obstet Gynecol. 1990;76(4):593–6.PubMedGoogle Scholar
  10. 10.
    Lang IM, Babyn P, Oliver GD. MR imaging of paediatric uterovaginal anomalies. Pediatr Radiol. 1999;29(3):163–70.PubMedCrossRefGoogle Scholar
  11. 11.
    Russ PD, et al. Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed by magnetic resonance imaging in a 15-year-old girl. J Pediatr Adolesc Gynecol. 1997;10(2):89–92.PubMedCrossRefGoogle Scholar
  12. 12.
    Shah RU, et al. Imaging of pediatric pelvic neoplasms. Radiol Clin North Am. 2011;49(4):729–48, vi.PubMedCrossRefGoogle Scholar
  13. 13.
    Pradhan S, Tobon H. Vaginal cysts: a clinicopathological study of 41 cases. Int J Gynecol Pathol. 1986;5(1):35–46.PubMedCrossRefGoogle Scholar
  14. 14.
    Nussbaum AR, Lebowitz RL. Interlabial masses in little girls: review and imaging recommendations. AJR Am J Roentgenol. 1983;141(1):65–71.PubMedCrossRefGoogle Scholar
  15. 15.
    Gingell JC, Gordon IR, Mitchell JP. Acute obstructive uropathy due to prolapsed ectopic ureterocele. Case report. Br J Urol. 1971;43(3):305–8.PubMedCrossRefGoogle Scholar
  16. 16.
    Pizzo PA, Poplack DG. Principles and practice of pediatric oncology. 3rd ed. Philadelphia: Lippincott-Raven; 1997. xxii, 1522 p., [1] leaf of plates.Google Scholar
  17. 17.
    Qualman SJ, et al. Intergroup Rhabdomyosarcoma Study: update for pathologists. Pediatr Dev Pathol. 1998;1(6):550–61.PubMedCrossRefGoogle Scholar
  18. 18.
    Hays DM, et al. Clinical staging and treatment results in rhabdomyosarcoma of the female genital tract among children and adolescents. Cancer. 1988;61(9):1893–903.PubMedCrossRefGoogle Scholar
  19. 19.
    McHugh K, Boothroyd AE. The role of radiology in childhood rhabdomyosarcoma. Clin Radiol. 1999;54(1):2–10.PubMedCrossRefGoogle Scholar
  20. 20.
    Atra A, et al. Conservative surgery in multimodal therapy for pelvic rhabdomyosarcoma in children. Br J Cancer. 1994;70(5):1004–8.PubMedCentralPubMedCrossRefGoogle Scholar
  21. 21.
    Agrons GA, et al. From the archives of the AFIP. Genitourinary rhabdomyosarcoma in children: radiologic-pathologic correlation. Radiographics. 1997;17(4):919–37.PubMedCrossRefGoogle Scholar
  22. 22.
    Breitfeld PP, Meyer WH. Rhabdomyosarcoma: new windows of opportunity. Oncologist. 2005;10(7):518–27.PubMedCrossRefGoogle Scholar
  23. 23.
    Singh J, Devi YL. Pregnancy following surgical correction of nonfused mullerian bulbs and absent vagina. Obstet Gynecol. 1983;61(2):267–9.PubMedGoogle Scholar
  24. 24.
    Bates GW, Wiser WL. A technique for uterine conservation in adolescents with vaginal agenesis and a functional uterus. Obstet Gynecol. 1985;66(2):290–4.PubMedGoogle Scholar
  25. 25.
    Salvatore CA, Lodovicci O. Vaginal agenesis: an analysis of ninety cases. Acta Obstet Gynecol Scand. 1978;57(1):89–94.PubMedCrossRefGoogle Scholar
  26. 26.
    Gunderson CH, et al. The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine (Baltimore). 1967;46(6):491–512.CrossRefGoogle Scholar
  27. 27.
    Hendren WH, Atala A. Use of bowel for vaginal reconstruction. J Urol. 1994;152(2 Pt 2):752–5; discussion 756–7.PubMedGoogle Scholar
  28. 28.
    Hensle TW, Reiley EA. Vaginal replacement in children and young adults. J Urol. 1998;159(3):1035–8.PubMedCrossRefGoogle Scholar
  29. 29.
    Suidan FG, Azoury RS. The transverse vaginal septum: a clinicopathologic evaluation. Obstet Gynecol. 1979;54(3):278–83.PubMedGoogle Scholar
  30. 30.
    Lodi A. Clinical and statistical study on vaginal malformations at the Obstetrical and Gynecological Clinic in Milano, 1906–50. Ann Ostet Ginecol. 1951;73(9):1246–85.PubMedGoogle Scholar
  31. 31.
    Rock JA, et al. Pregnancy success following surgical correction of imperforate hymen and complete transverse vaginal septum. Obstet Gynecol. 1982;59(4):448–51.PubMedGoogle Scholar
  32. 32.
    Snyder EM, et al. Vesicovaginal reflux mimicking obstructive hydrocolpos. J Ultrasound Med. 2007;26(12):1781–4.PubMedGoogle Scholar
  33. 33.
    Garcia RF. Z-plasty for correction of congenital transferse vaginal septum. Am J Obstet Gynecol. 1967;99(8):1164–5.PubMedGoogle Scholar
  34. 34.
    Garcia J, Jones Jr HW. The split thickness graft technic for vaginal agenesis. Obstet Gynecol. 1977;49(3):328–32.PubMedGoogle Scholar
  35. 35.
    Rock JA, Azziz R. Genital anomalies in childhood. Clin Obstet Gynecol. 1987;30(3):682–96.PubMedCrossRefGoogle Scholar
  36. 36.
    Bouvattier C. Disorders of sex development: endocrine aspects. In: Gearhart JP, Rink RC, Mouriquand DE, editors. Pediatric urology. Philadelphia: Saunders Elsevier; 2010. p. 459–75.CrossRefGoogle Scholar
  37. 37.
    van Niekerk WA. True hermaphroditism: an analytic review with a report of 3 new cases. Am J Obstet Gynecol. 1976;126(7):890–907.PubMedGoogle Scholar
  38. 38.
    Montero M, et al. True hermaphroditism and normal male external genitalia: a rare presentation. Acta Paediatr. 1999;88(8):909–11.PubMedCrossRefGoogle Scholar
  39. 39.
    Hensle T, Kennedy WAI. Surgical management of intersexuality. Philadelphia: W.B. Saunders; 1998.Google Scholar
  40. 40.
    Rink RC, Adams MC, Misseri R. A new classification for genital ambiguity and urogenital sinus anomalies. BJU Int. 2005;95(4):638–42.PubMedCrossRefGoogle Scholar
  41. 41.
    Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005;365(9477):2125–36.PubMedCrossRefGoogle Scholar
  42. 42.
    Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med. 2003;349(8):776–88.PubMedCrossRefGoogle Scholar
  43. 43.
    Jaramillo D, Lebowitz RL, Hendren WH. The cloacal malformation: radiologic findings and imaging recommendations. Radiology. 1990;177(2):441–8.PubMedGoogle Scholar
  44. 44.
    Rink RC, Adams MC. Feminizing genitoplasty: state of the art. World J Urol. 1998;16(3):212–18.PubMedCrossRefGoogle Scholar
  45. 45.
    Karlin G, et al. Persistent cloaca and phallic urethra. J Urol. 1989;142(4):1056–9.PubMedGoogle Scholar
  46. 46.
    Fleming SE, et al. Imperforate anus in females: frequency of genital tract involvement, incidence of associated anomalies, and functional outcome. J Pediatr Surg. 1986;21(2):146–50.PubMedCrossRefGoogle Scholar
  47. 47.
    Levitt MA, Pena A. Pitfalls in the management of newborn cloacas. Pediatr Surg Int. 2005;21(4):264–9.PubMedCrossRefGoogle Scholar
  48. 48.
    Raffensperger JG. The cloaca in the newborn. Birth Defects Orig Artic Ser. 1988;24(4):111–23.PubMedGoogle Scholar
  49. 49.
    Pena A. The surgical management of persistent cloaca: results in 54 patients treated with a posterior sagittal approach. J Pediatr Surg. 1989;24(6):590–8.PubMedCrossRefGoogle Scholar
  50. 50.
    Cilento Jr BG, Benacerraf BR, Mandell J. Prenatal diagnosis of cloacal malformation. Urology. 1994;43(3):386–8.PubMedCrossRefGoogle Scholar
  51. 51.
    Rink RC, et al. Upper and lower urinary tract outcome after surgical repair of cloacal malformations: a three-decade experience. BJU Int. 2005;96(1):131–4.PubMedCrossRefGoogle Scholar
  52. 52.
    Rink RC, Kaefer M. Surgical management of intersexuality, cloacal malformation and other abnormalities of the genitalia in girls. In: Retik AB, Walsh P, Vaugh EP, Wein AJ, editors. Campell’s urology. Philadelphia: W.B. Saunders; 2002. p. 2428–67.Google Scholar

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

Personalised recommendations