Article
Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.
The American journal of case reports - 24 Apr 2020
Santiago de Sousa Azulay Rossana, Magalhães Marcelo, Tavares Maria da Gloria, Dualibe Roberta, Barbosa Lívia, Sá Gaspar Silvia, Faria André M, Nascimento Gilvan Cortês, Damianse Sabrina Da Silva Pereira, Rocha Viviane Chaves de Carvalho, Gomes Marília B, Dos Santos Faria Manuel
Abstract excerpt
BACKGROUND Juvenile hemochromatosis is a rare genetic disease that leads to intense iron accumulation. The disease onset usually occurs before the third decade of life and causes severe dysfunction in various organs. The most classical clinical findings are hypogonadotropic hypogonadism, cardiomyopathy, liver fibrosis, glycemic changes, arthropathy and skin pigmentation. However, secondary hypothyroidism is not...
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