MRI Features of Androgen Insensitivity Syndrome: Case Report
K. Boumlik, I. Mahdar, S. Jelloul, Dalal Laoudiyi, K. Chbani, S. Salam
Abstract
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K. Boumlik, I. Mahdar, S. Jelloul, Dalal Laoudiyi, K. Chbani, S. Salam
Abstract
Open-access reader
Androgen insensitivity syndrome or testicular feminization is a genetic condition caused by the defect of androgen receptors and resulting in a lack of response to androgen. In the complete form patients have a female phenotype with a male karyotype (XY). In most cases it is revealed by primary amenorrhea. Imaging modalities are very contributive in the initial diagnosis but also to localize gonads. We report the case of complete androgen insensitivity in a 12 years old girl, discovered accidentally during an ultrasound for acute abdominal pain.
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Androgen insensitivity syndrome or testicular feminization is a genetic condition caused by the defect of androgen receptors and resulting in a lack of response to androgen. In the complete form patients have a female phenotype with a male karyotype (XY). In most cases it is revealed by primary amenorrhea. Imaging modalities are very contributive in the initial diagnosis but also to localize gonads. We report the case of complete androgen insensitivity in a 12 years old girl, discovered accidentally during an ultrasound for acute abdominal pain.
Key concepts: Androgen insensitivity syndrome, Complete androgen insensitivity syndrome, Primary amenorrhea, Testicular feminization, Androgen, Androgen receptor, Medicine, Amenorrhea