Fraccascia Barbara, Sodero Giorgio, Pane Lucia Celeste, Malavolta Elena, Gola Caterina, Pane Luigi, Paradiso Valentina Filomena, Nanni Lorenzo, Rigante Donato, Cipolla Clelia
Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università della Campania Luigi Vanvitelli, 81100 Naples, Italy.
Diseases. 2024 Oct 1;12(10):235. doi: 10.3390/diseases12100235.
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 () gene. 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 variant (c.159_207del). 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. 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.
完全性雄激素不敏感综合征（CAIS）是一种罕见的性发育障碍，其特征为46,XY核型和睾丸，但表现为完全女性表型，这与雄激素受体（）基因突变有关。我们在此报告一例14岁青春期原发性闭经且疑似青春期发育延迟的青少年病例，其诊断过程通过发现一个新的变异（c.159_207del）确诊为CAIS。我们的报告涵盖了CAIS管理的复杂性，重点关注恶性肿瘤风险、监测方案、激素替代疗法、最终性腺切除术的时机以及这种诊断的心理社会影响。已制定了从青春期开始管理CAIS的算法，强调了对那些不愿接受性腺切除术的患者采取保守方法。原发性闭经和青春期发育延迟可能提供线索，最终导致CAIS的诊断。本综述强调了多学科方法在管理CAIS患者中的至关重要性，需要个性化护理以优化总体结果。
