Elzbieta MARCZAK, Maria SZARRAS-CZAPNIK, Agata SKÓRKA, Kinga KOWALCZYK, Gabriela GROCHOWSKA, Malgorzata WALEWSKA-WOLF, Barbara ANTONIAK, Katarzyna BAJSZCZAK, El?bieta MOSZCZY?SKA
Journal of Clinical Research in Pediatric Endocrinology - 2026;18(2):273-281
Objective: Complete androgen insensitivity syndrome (CAIS) is caused by mutations in the androgen receptor (AR) gene, leading to androgen resistance. Early recognition is critical for optimal management. To evaluate clinical presentations, hormonal profiles, genetic characteristics, and decisions regarding gonadectomy in pediatric CAIS. Factors influencing gonadectomy, including malignancy risk, gonadal function, and psychological well-being were assessed. Methods: Medical records of 16 children with genetically confirmed CAIS patients, aged 3 days-18 years, diagnosed between 2004 and 2024 at a tertiary referral center were retrospectively reviewed. Clinical, hormonal, genetic, and histological data were analyzed. Results: Twelve patients (75%) were diagnosed prepubertally, most commonly due to inguinal hernia. Familial recurrence occurred in four cases (25%). Novel pathogenic AR variants not previously reported in public databases were identified in three patients. Prepubertal patients with hormone data (n=5) demonstrated Anti-Müllerian hormone>150 pM. Pubertal patients (n=9) had markedly elevated testosterone levels [median at 1361.3 ng/dL, range 367-3460 ng/dL]. Gonadal biopsy was performed in three cases (19%). Gonadal preservation was recommended in 11 children (69%), while five (31%) underwent gonadectomy followed by estrogen replacement therapy. Conclusion: Most CAIS cases in this pediatric cohort were detected early through inguinal hernia or family screening. Delayed gonadectomy allowed spontaneous pubertal development and feminization. While gonadectomy results in lifelong hormone dependence and may raise identity-related concerns, surveillance-based gonadal preservation appears safe during childhood. The identification of novel AR variants expands the mutational spectrum of CAIS and highlights the need for multicenter registries and improved biomarkers to optimize individualized care.
