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
Barbara Fraccascia,
Giorgio Sodero,
Lucia Celeste Pane,
Elena Malavolta,
Caterina Gola,
Luigi Pane,
Valentina Filomena Paradiso,
Lorenzo Nanni,
Donato Rigante,
Clelia Cipolla
Affiliations
Barbara Fraccascia
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
Giorgio Sodero
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
Lucia Celeste Pane
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
Elena Malavolta
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
Caterina Gola
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
Luigi Pane
Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università della Campania Luigi Vanvitelli, 81100 Naples, Italy
Valentina Filomena Paradiso
Unit of Pediatric Surgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
Lorenzo Nanni
Unit of Pediatric Surgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
Donato Rigante
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
Clelia Cipolla
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
Background: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (AR) gene. Case presentation: We herein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed puberty whose diagnostic journey led to the identification of CAIS through the demonstration of a novel AR variant (c.159_207del). Case-based review: Our report encompasses the complexity of CAIS management, focusing on the risk of malignancy, surveillance options, hormone replacement therapy, timing of an eventual gonadectomy, and the psychosocial impact of such a diagnosis. An algorithm 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.