Androgen Insensitivity Syndrome: A Clinical Case Report and Literature Review

Abstract

Androgen Insensitivity Syndrome is a rare sexual development disorder characterized by a mismatch between genetic, gonadal, and phenotypic sex.

A 19-year-old individual, phenotypically female with female psychosexual identity, presented at a gynecological clinic due to primary amenorrhea. Physical examination revealed sexual development corresponding to Tanner stage Ma4P2AX0Me0. Gynecological examination showed hypoplastic external genitalia, non-virilized clitoris, and a 3 cm long blind-ending vagina. Pelvic ultrasound and magnetic resonance imaging revealed vaginal hypoplasia, uterine agenesis, gonads at the level of the iliac fossa. Hormonal profile was typical of a male, with normal male levels of circulating androgens. Cytogenetic analysis confirmed a 46, XY karyotype. Based on these clinical, laboratory, and imaging findings, a diagnosis of complete androgen insensitivity syndrome (CAIS) was made. The management plan included gonadectomy to prevent malignancy risk, followed by lifelong estrogen replacement therapy.

In the management of patients with CAIS is crucial to consider both medical and psychological aspects, while also taking into account the patient's gender identity. Individuals with CAIS typically have a female gender identity, as was observed in our clinical case. This aligns with the understanding that androgen resistance affects not only the development of external genitalia but also brain development and psychosexual identity. Despite the initial stress of the diagnosis, the patient maintained her established female gender identity, opting not to pursue gender reassignment and continues to live as a woman. Our findings contribute to the growing body of evidence suggesting that gender identity in CAIS is influenced by a complex interplay of genetic, hormonal, psychological, and social factors

Conclusions: Early detection and timely gonadectomy are key in managing androgen insensitivity syndrome, significantly lowering the risk of gonadal cancer. Post-gonadectomy, hormone replacement therapy with estrogen is vital for feminization, psychological well-being, and overall health management, particularly in preventing complications from estrogen deficiency. Optimal care for these patients requires a multidisciplinary team approach, including collaboration with the patient's family.