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Complete androgen insensitivity syndrome with microtia: a rare presentation
Narvir Singh Chauhan1, Yash Paul Sharma, Sanjeev Sharma
1Department of Radiodiagnosis, Dr. Rajendra Prasad Government Medical College Campus, Himachal Pradesh, India. narvirschauhan@yahoo.com
Japanese Journal of Radiology
|January 26, 2011
Summary
This is the first documented case of Complete Androgen Insensitivity Syndrome (CAIS) co-occurring with microtia. The study details the unique radiological findings in this rare genetic disorder presentation.
Area of Science:
- Medical Genetics
- Radiology
- Endocrinology
Background:
- Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked disorder where individuals with a male genotype present with a female phenotype.
- Microtia is a congenital condition characterized by a malformed auricle, sometimes with a non-sex-linked genetic basis.
- The co-occurrence of CAIS and microtia has not been previously reported in medical literature.
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