A Feminizing Adrenocortical Carcinoma Presenting with Marie-Antoinette Syndrome

    November 2022 in “ Journal of the Endocrine Society ”
    Abdulla Alnuaimi, Majid Alameri, Aimee D Marco, Florian Wernig
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    TLDR A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
    A 58-year-old male presented with symptoms of feminization and Marie-Antoinette syndrome, characterized by patchy hair loss, change in hair color to white, loss of body hair and eyebrows, and breast tenderness. Hormone tests showed significantly elevated estradiol and very low testosterone levels. Imaging revealed an 11 cm adrenocortical carcinoma (ACC) invading the inferior vena cava, which was metabolically active but not metastatic. The tumor was removed surgically and confirmed to be an ACC with a Weiss score of 8, indicating a high likelihood of malignancy. Postoperative recovery was good, and the patient underwent adjuvant chemotherapy with Mitotane and EDP, although Mitotane was temporarily stopped due to side effects. The patient's estradiol levels normalized post-treatment, and his hoarse voice, a possible sign of tumor recurrence or paraneoplastic aortitis, improved. This case highlights the rarity of estradiol-secreting ACCs presenting with feminization and suggests that targeted molecular tumor analysis and clinical trial enrolment may be beneficial for treatment.
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