Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-Dependent Diabetes Mellitus, Secondary Hypothyroidism, and Hypogonadism

    April 2020 in “ American Journal of Case Reports ”
    Rossana Santiago de Sousa Azulay, Marcelo Magalhães, Maria da Glória Tavares, Roberta Dualibe, Lívia Maria Gruli Barbosa, Silvia Sá Gaspar, André M. Faria, Gilvan Cortês Nascimento, Sabrina da Silva Pereira Damianse, Viviane Chaves de Carvalho Rocha, Marília Brito Gomes, Manuel dos Santos Faria
    TLDR A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
    This study identified a novel mutation, c.697delC, in the HJV gene of a 26-year-old female with juvenile hemochromatosis, leading to excessive iron accumulation. The patient presented with symptoms including hypogonadotropic hypogonadism, cardiomyopathy, insulin-dependent diabetes mellitus, and secondary hypothyroidism, the latter not previously associated with this condition. The mutation caused a frameshift and premature stop codon, resulting in a non-expressible truncated protein, impairing hepcidin transcription and causing severe iron overload. This case underscored the importance of considering juvenile hemochromatosis in diagnosing multiple endocrinopathies in young adults.
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