Testosterone Replacement in 49,XXXXY Syndrome: Andrological, Metabolic, and Neurological Aspects

    January 2016 in “ Endocrinology, diabetes & metabolism case reports ”
    Rossella Mazzilli, Michele Delfino, Jlenia Elia, Francesco Benedetti, Laura Alesi, Luciana Chessa, Fernando Mazzilli
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    TLDR Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
    A 19-year-old male with 49,XXXXY syndrome, a rare genetic condition, exhibited congenital malformations, mental retardation, and delayed puberty. Initial treatments were limited to psychological support. Upon further examination, he was diagnosed with hypergonadotropic hypogonadism, insulin resistance, and vitamin D deficiency. After 12 months of testosterone replacement therapy, improvements were observed in testosterone levels, pubic hair growth, testicular volume, penis size, weight, insulin resistance, and vitamin D levels. Additionally, the patient showed better social interaction. The study highlighted the importance of early diagnosis and treatment for better outcomes in similar cases.
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