Late Diagnosis of Complete Androgen Insensitivity

    April 2019 in “ Journal of the Endocrine Society ”
    Karen Tsai, Tong Liang, Braden Barnett, Jonathan S. LoPresti
    TLDR A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
    The article discussed a case of a 31-year-old female diagnosed with Complete Androgen Insensitivity Syndrome (CAIS), a rare condition typically identified at menarche. The patient presented with primary amenorrhea, minimal breast development, sparse body hair, and a shallow vaginal canal. Physical examination and lab results confirmed CAIS, showing elevated testosterone, LH, and FSH levels, and a 46, XY karyotype. The patient underwent bilateral orchiectomy and started estrogen replacement therapy. The case highlighted the importance of early diagnosis for effective management and psychosocial support, noting the psychological distress caused by the late diagnosis. The authors emphasized the need for further research to develop evidence-based guidelines for CAIS treatment.
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