Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome

    September 2019 in “ Steroids ”
    Maher Kharrat, Asma Tajouri, Imen Ben Nacef, Cyrine Hizem, Médiha Trabelsi, Faouzi Mâazoul, Ridha Mrad, Habiba Chaâbouni
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    Studysummary In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.
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    In 2019, a study was conducted to analyze the AR gene in ten patients with complete androgen insensitivity syndrome (CAIS). The patients, all 46,XY Tunisian individuals, exhibited typical CAIS symptoms such as normal female external phenotype, primary amenorrhea, and elevated Testosterone and LH. The study identified two novel mutations in the AR gene, in addition to seven previously reported mutations. These findings were significant as mutations in the AR gene result in varying degrees of androgen receptor dysfunction, which can lead to disorders of sex development (DSD) such as CAIS. The identification of these mutations aids in making informed decisions for sex assignment and providing more precise diagnoses of AIS.
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