Complete Androgen Insensitivity Syndrome Presenting as Primary Amenorrhea in an Adolescent Female: A Case Report

Introduction: Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder caused by mutations in the androgen receptor gene, resulting in androgen resistance in individuals with a 46,XY karyotype. It commonly presents with primary amenorrhea, female phenotype, absent uterus, and undescended testes.

Case Presentation: An 18-year-old phenotypic female presented with primary amenorrhea. She exhibited normal breast development with sparse pubic and axillary hair, normal external genitalia, and a short blind-ending vaginal pouch. Hormonal evaluation revealed elevated serum testosterone and luteinizing hormone levels, with normal estradiol. Imaging studies, including pelvic ultrasonography and MRI, demonstrated absent Müllerian structures and bilateral intra-abdominal testes. Karyotyping confirmed a 46,XY chromosomal pattern. After diagnosis, the patient and her family received counseling regarding infertility, risk of gonadal malignancy, and options for elective gonadectomy. A multidisciplinary plan was formulated, including gonadectomy after spontaneous pubertal development, estrogen replacement therapy, and psychological support for long-term follow-up. Result: The patient had normal breast development with sparse pubic and axillary hair and a blind-ending vagina. Hormonal evaluation revealed elevated serum testosterone and LH levels with normal estradiol. Imaging demonstrated absent uterus and bilateral intra-abdominal testes. Karyotyping confirmed a 46,XY chromosomal pattern, establishing the diagnosis of CAIS. The patient underwent multidisciplinary counseling regarding infertility, gonadectomy, and hormonal management.

Conclusion: CAIS should be suspected in phenotypic females presenting with primary amenorrhea and absent uterus. Early diagnosis and multidisciplinary management are essential for appropriate hormonal, surgical, and psychological care