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    A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

    Yuqing Song, Lei Wang, Qianqian Huang … Xiang Hu
    Studysummary In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 2

    1. Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother Archives of Endocrinology and Metabolism · 2024
    2. Interventional Studies for Polycystic Ovarian Syndrome in Children and Adolescents Pediatric Health · 2010