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24 April 2020 : Case report  Brazil

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

Rare disease

Rossana Santiago de Sousa Azulay12ABCDEF*, Marcelo Magalhães123ACDEF, Maria da Gloria Tavares12BCD, Roberta Dualibe12BCD, Lívia Barbosa2BCDF, Silvia Sá Gaspar2CD, André M. Faria4DEF, Gilvan Cortês Nascimento12BCD, Sabrina Da Silva Pereira Damianse12BCD, Viviane Chaves de Carvalho Rocha12BCD, Marília B. Gomes5ADE, Manuel dos Santos Faria123ADEF

DOI: 10.12659/AJCR.923108

Am J Case Rep 2020; 21:e923108

Abstract

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 reported in these patients. Juvenile hemochromatosis has an autosomal recessive inheritance and might be type 2A or type 2B, due to mutation in either the hemojuvelin gene (HJV) or hepcidin antimicrobial peptide (HAMP) gene.

CASE REPORT: A 26-year-old female patient was admitted with a recent history of diabetic ketoacidosis. Three months after that admission, she presented with arthralgia, diffuse abdominal pain, adynamia, hair loss, darkening of the skin and amenorrhea. Severe iron overload was found and findings in the hepatic biopsy were compatible with hemochromatosis. An upper abdominal magnetic resonance imaging (MRI) showed iron deposition in the liver and pancreas and pituitary MRI exhibited accumulation on the anterior pituitary. After 16 months the patient presented with dyspnea and lower limb edema, and cardiac MRI indicated iron deposition in the myocardium. The patient was diagnosed with juvenile hemochromatosis presenting with hypogonadotropic hypogonadism, cardiomyopathy, insulin-dependent diabetes mellitus, and secondary hypothyroidism. A novel homozygous mutation, c.697delC, in the HJV gene was detected.

CONCLUSIONS: We describe for the first time a severe and atypical case of juvenile hemochromatosis type 2A presenting classical clinical features, as well as secondary hypothyroidism resulting from a novel mutation in the HJV gene.

Keywords: Hemochromatosis, Hypothyroidism, Iron Overload, Pituitary Diseases, Adult, Diabetes Mellitus, Type 1, GPI-Linked Proteins, Hemochromatosis Protein, Hypogonadism, Mutation

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923