Complete androgen insensitivity syndrome with microtia: a rare presentation.
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.
Department of Radiodiagnosis, Dr. Rajendra Prasad Government Medical College Campus, Himachal Pradesh, India. narvirschauhan@yahoo.com
Narvir Singh
NS
Chauhan
Yash Paul
YP
Sharma
Sanjeev
S
Sharma
Saurabh
S
Sharma
D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis*; D000013:Congenital Abnormalities / Q000175:diagnosis; D065817:Congenital Microtia; D003937:Diagnosis, Differential; D004423:Ear / Q000002:abnormalities; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed
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