An Adolescent Girl Presenting With Primary Amenorrhea: A Case Report of Complete Androgen Insensitivity Syndrome

    January 2023 in “ IJEM case reports ”
    Sanjay Kumar Bhadada, Jayaditya Ghosh, Sadam Hussain, Pradeep Kumar, Ramanjit Singh Antaal, Soham Mukherjee, Rama Walia, Sanjay Bhadada
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    TLDR A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
    The document discusses a case study of a 15-year-old diagnosed with Complete Androgen Insensitivity Syndrome (CAIS), a condition that results in a female phenotype in individuals with a 46XY chromosomal pattern. The patient had primary amenorrhea and lacked axillary and pubic hair. Hormonal tests revealed high levels of luteinizing hormone (LH), testosterone, and anti-Müllerian hormone (AMH). The patient underwent bilateral laparoscopic gonadectomy and started hormone replacement therapy with estradiol. A genetic analysis found a mutation in the androgen receptor. The case underscores the significance of clinical examination in patients with primary amenorrhea for diagnosing CAIS.
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