Novel Presentation of a Heterozygous INSR Mutation and Markedly Elevated Testosterone Levels in a Pediatric Patient: A Case Report

    April 2019 in “ Journal of the Endocrine Society ”
    Jaime Haidet, Natinder Saini, Carrie Costin
    TLDR A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
    In 2019, a case report was published about a 14-year-old female patient who presented with primary amenorrhea and hirsutism, symptoms often associated with Polycystic Ovary Syndrome (PCOS). However, the patient's significantly elevated testosterone levels (301ng/dL) and other symptoms led to further investigation. Genetic testing confirmed a heterozygous pathogenic mutation (c.3602G>A; p.Arg1201Gln) in the INSR gene, indicating Type A Insulin Resistance Syndrome, a rare disorder characterized by severe insulin resistance. This case was unique due to the unusually high testosterone levels associated with this INSR mutation. The patient was treated with metformin, drospirenone-ethinyl estradiol, and laser hair removal, which improved her clinical and biochemical features. This case added to the understanding of the variable clinical findings and outcomes related to Type A Insulin Resistance, especially in the pediatric population.
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