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Japanese Journal of Radiology

, Volume 29, Issue 1, pp 67–71 | Cite as

Complete androgen insensitivity syndrome with microtia: a rare presentation

  • Narvir Singh Chauhan
  • Yash Paul Sharma
  • Sanjeev Sharma
  • Saurabh Sharma
Case Report
  • 99 Downloads

Abstract

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder characterized by a female body habitus and male genotype. The Müllerian duct derivatives are absent or rudimentary, and the testes are undescended. Microtia is characterized by a malformed auricle; and in some cases it is genetically transmitted with a non-sex-linked inheritance pattern. The presence of CAIS with microtia has not been documented previously, and this is the first case to describe the radiological findings of this rare presentation.

Key words

Complete androgen insensitivity syndrome Microtia Müllerian agenesis Ectopic gonads Primary amenorrhea 

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References

  1. 1.
    Boehmer AL, Brinkmann O, Bruggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, et al. Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab 2001;86:4151–4160.CrossRefPubMedGoogle Scholar
  2. 2.
    Brown CJ, Goss SJ, Lubahn DB, Joseph DR, Wilson EM, French FS, et al. Androgen receptor locus on X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am J Hum Genet 1989;44:264–269.PubMedGoogle Scholar
  3. 3.
    Huges I, Deeb A. Androgen resistance. Best Pract Res Clin Endocrinol Metab 2006;20:577.CrossRefGoogle Scholar
  4. 4.
    Manuel M, Katayama PK, Jones HW. The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol 1976;124:293–300.PubMedGoogle Scholar
  5. 5.
    Oakes MB, Eyvazzadeh AD, Quint E, Smith YR. Complete androgen insensitivity syndrome: a review. J Pediatr Adolsec Gynecol 2008;21:305–310.CrossRefGoogle Scholar
  6. 6.
    Reinhold C, Hricak H, Forstner R, Ascher SM, Bret PM, Meyer WR, et al. Primary amenorrhea: evaluation with MR imaging. Radiology 1997;203:383–390.PubMedGoogle Scholar
  7. 7.
    Karabulut N, Karabulut A, Pakdemıriı E, Sabır N, Soysal SK, Soysal ME. Stromal tumor of the sex cord in a woman with testicular feminization syndrome: imaging features. AJR Am J Roentgenol 2002;178:1496–1498.PubMedGoogle Scholar
  8. 8.
    Aittomaki K, Eroila H, Kajanoja P. A population-based study of the incidence of müllerian aplasia in Finland. Fertil Steril 2001;76:624–625.CrossRefPubMedGoogle Scholar
  9. 9.
    Eavey RD. Microtia and significant auricular malformation: ninety-two pediatric patients. Arch Otolaryngol Head Neck Surg 1995;121:57–62.PubMedGoogle Scholar
  10. 10.
    Bartel-Friedrich S, Wulke C. Classification and diagnosis of ear malformations. GMS Curr Top Otorhinolaryngol Head Neck Surg 2007;6:Doc05.Google Scholar

Copyright information

© Japan Radiological Society 2011

Authors and Affiliations

  • Narvir Singh Chauhan
    • 1
  • Yash Paul Sharma
    • 1
  • Sanjeev Sharma
    • 2
  • Saurabh Sharma
    • 3
  1. 1.Department of Radiodiagnosis, Set No A3, Type IVDr. Rajendra Prasad Government Medical College Campus, Tanda (Kangra)Himachal PradeshIndia
  2. 2.Department of SurgeryDr. Rajendra Prasad Government Medical CollegeTandaIndia
  3. 3.Department of PathologyDr. Rajendra Prasad Government Medical CollageTandaIndia

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