A Teenage Girl with Unexpected Pubertal Changes

    June 2018 in “ Clinical chemistry ”
    Nilika Wijeratne, Alan McNeil, James C.G. Doery, Elizabeth McLeod, Philip Bergman, Joseph Montalto
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    TLDR The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
    A 9-year-old girl with labial fusion and undescended gonads was found to have a 46, XY karyotype and was provisionally diagnosed with complete androgen insensitivity syndrome (CAIS). However, at 13 years of age, she developed pubic hair, prompting further investigation. Laboratory tests showed abnormal steroid metabolite ratios and a high testosterone/DHT ratio after hCG stimulation, suggesting a different diagnosis than CAIS. The document poses questions regarding the differential diagnosis of an undervirilized genetic male, tests for investigating disorders of sex development (DSD), and the most probable diagnosis for the patient, indicating that the case study is used to explore DSD diagnostic approaches.
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