ArticleEndocrine2025
Familial complete androgen insensitivity syndrome (CAIS): a case series of three siblings with emphasis on diagnosis, management, and psychosocial outcomes.
Article in Endocrine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveTo 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.
methodsThree 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.
resultsAll 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.
conclusionCAIS 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.
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