Gynecology World Conference 2026

Abstract

Background: Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked disorder of sex development resulting from mutations in the androgen receptor gene, leading to impaired cellular response to androgens in individuals with a 46,XY karyotype. Affected individuals typically present with a female phenotype, normal breast development, sparse pubic or axillary hair, primary amenorrhea, and absence of Müllerian structures. The estimated prevalence ranges from 1 in 20,000 to 1 in 100,000 live births. Early recognition is critical to ensure appropriate diagnostic evaluation, reduce malignancy risk and multidisciplinary management.

Aim: To describe the clinical presentation, diagnostic work-up, and multidisciplinary management of an adolescent with Complete Androgen Insensitivity Syndrome presenting with primary amenorrhea.

Case: An 18-year-old phenotypically female presented with primary amenorrhea and bilateral inguinal and labial masses. Physical examination demonstrated normal female external genitalia, Tanner stage V breast development, sparse axillary hair, and a short blind-ending vaginal pouch without a visible cervix. Pelvic ultrasonography and magnetic resonance imaging revealed absence of the uterus and ovaries, with bilateral inguinolabial gonadal structures. Hormonal evaluation showed elevated testosterone and gonadotropin levels. Cytogenetic analysis confirmed a 46,XY karyotype, establishing the diagnosis of CAIS.

Results: The patient underwent bilateral gonadectomy to mitigate the risk of malignant transformation associated with undescended testes. Histopathology confirmed cryptorchid testicular tissue. Postoperatively, estrogen replacement therapy was initiated, and the patient received genetic counseling and psychiatric support as part of a comprehensive multidisciplinary care plan.

Discussion: CAIS should be strongly considered in phenotypically female adolescents presenting with primary amenorrhea and absent Müllerian structures. Early diagnosis, timely gonadectomy, and coordinated multidisciplinary management are essential to optimize long-term endocrine, reproductive, and psychosocial outcomes.