Isochromosome Mosaic Turner Syndrome: A Case Report

    November 2019 in “ Journal of the ASEAN Federation of Endocrine Societies ”
    Mark Ramon Victor B Llanes, May Uyking-Naranjo
    TLDR A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
    The case report detailed two females with Isochromosome Mosaic Turner Syndrome (IMTS), highlighting the importance of early diagnosis and multidisciplinary management. Both patients exhibited classic Turner Syndrome features such as short stature and primary amenorrhea, with one also presenting with alopecia. Genetic analysis confirmed the presence of an isochromosome for the long arm of the X chromosome. The report emphasized the variability in clinical presentation and the necessity for personalized treatment plans, including growth hormone and estrogen replacement therapies. The cases underscored the importance of karyotyping and a holistic approach to address the various health challenges associated with the syndrome.
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