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

October 2023 in “ IJEM case reports ”

Sanjay Kumar Bhadada, Jayaditya Ghosh, Sadam Hussain, Pradeep Kumar, Ramanjit Singh Antaal, Soham Mukherjee, Rama Walia, Sanjay Bhadada

Complete Androgen Insensitivity Syndrome CAIS primary amenorrhea 46XY chromosomal pattern luteinizing hormone LH testosterone anti-Müllerian hormone AMH bilateral laparoscopic gonadectomy hormone replacement therapy estradiol androgen receptor gonad removal HRT

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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