Complete androgen insensitivity syndrome with microtia: a rare presentation
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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 wordsComplete androgen insensitivity syndrome Microtia Müllerian agenesis Ectopic gonads Primary amenorrhea
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