Rajaraman Vaishnavi, Vishwanath Usha, D Cruze Lawrence
Department of Obstetrics & Gynecology, Government Medical College and Hospital Kottayam, Kottayam, India.
Department of Obstetrics & Gynecology, Sri Ramachandra Institute of Higher Education & Research Centre, Chennai, India.
Endocrine. 2025 Aug;89(2):627-631. doi: 10.1007/s12020-025-04264-1. Epub 2025 May 13.
To highlight the clinical presentation, diagnostic challenges, and management of Complete Androgen Insensitivity Syndrome (CAIS) through a case series of three sisters, emphasizing the importance of early recognition and multidisciplinary care.
Three phenotypically female siblings with primary amenorrhea underwent hormonal evaluation, imaging, and genetic testing. Hormonal studies revealed elevated serum testosterone levels, while imaging confirmed the absence of a uterus and ovaries. Karyotyping identified a 46, XY genotype with the presence of the SRY gene, confirming CAIS.
All three sisters exhibited normal female secondary sexual characteristics despite a 46, XY karyotype. The absence of Müllerian structures on imaging and elevated testosterone levels guided the diagnosis. Multidisciplinary management, including hormonal therapy, psychological support, and surgical planning, was discussed.
CAIS should be considered in individuals with primary amenorrhea and normal female phenotype. Early diagnosis is crucial for appropriate management, including psychological counseling, gonadectomy when indicated, and hormonal therapy to optimize long-term health and quality of life.
通过一个包含三姐妹的病例系列，突出完全性雄激素不敏感综合征（CAIS）的临床表现、诊断挑战及管理，强调早期识别和多学科护理的重要性。
三名表现型为女性且原发性闭经的姐妹接受了激素评估、影像学检查和基因检测。激素研究显示血清睾酮水平升高，而影像学检查证实无子宫和卵巢。核型分析确定为46, XY基因型且存在SRY基因，确诊为CAIS。
尽管核型为46, XY，但所有三姐妹均表现出正常的女性第二性征。影像学上无苗勒管结构以及睾酮水平升高有助于诊断。讨论了包括激素治疗、心理支持和手术规划在内的多学科管理。
对于原发性闭经且具有正常女性表型的个体，应考虑CAIS。早期诊断对于适当管理至关重要，包括心理咨询、必要时进行性腺切除术以及激素治疗，以优化长期健康和生活质量。
