Complete androgen insensitivity syndrome in a young girl with primary amenorrhea and suspected delayed puberty: a case-based review of clinical management, surgical follow-up, and oncological risk

Background: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex\r\ndevelopment characterized by 46,XY karyotype and testes, yet presenting with a complete female\r\nphenotype, which is related to mutations in the androgen receptor (AR) gene. Case presentation: We\r\nherein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed\r\npuberty whose diagnostic journey led to the identification of CAIS through the demonstration of\r\na novel AR variant (c.159_207del). Case-based review: Our report encompasses the complexity of\r\nCAIS management, focusing on the risk of malignancy, surveillance options, hormone replacement\r\ntherapy, timing of an eventual gonadectomy, and the psychosocial impact of such a diagnosis. An\r\nalgorithm has been formulated for the management of CAIS starting in adolescence, highlighting the conservative approach for those patients unwilling to undergo gonadectomy. Conclusions: Primary amenorrhea and delay in puberty development may provide clues, ultimately leading to a diagnosis of CAIS. This review emphasizes the cruciality of a multidisciplinary approach in managing patients with CAIS, needing for an individualized care to optimize the overall outcome.