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 case report described a 26-year-old female patient with juvenile hemochromatosis type 2A, who presented with classical symptoms such as hypogonadotropic hypogonadism, cardiomyopathy, and insulin-dependent diabetes mellitus, along with secondary hypothyroidism, which was atypical for this condition. The patient exhibited severe iron overload with iron deposition in the liver, pancreas, anterior pituitary, and myocardium. A novel homozygous mutation, c.697delC, in the HJV gene was identified, marking the first report of such a mutation associated with these clinical features, including secondary hypothyroidism.
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