Tag: juvenile hemochromatosis
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Juvenile Hemochromatosis Type 2A Presenting With Hypogonadism, Diabetes, and Osteoporosis: A Young Woman’s Case
Overview Hereditary hemochromatosis type 2A, also known as juvenile hemochromatosis, is a rare autosomal recessive disorder driven by mutations in the HJV gene. It causes severe systemic iron overload with multiorgan involvement that often presents at a younger age than classic adult forms. The following case underscores how iron toxicity can manifest through endocrine and…
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Juvenile Hemochromatosis Type 2A in a Young Woman: Case Report
Overview Juvenile hemochromatosis, medically known as hereditary hemochromatosis type 2A (HH type 2A), is a rare autosomal recessive disorder caused by mutations in the HJV gene. This condition leads to rapid and profound iron overload with multiorgan involvement. Clinicians should maintain a high index of suspicion when young patients present with endocrine and skeletal abnormalities…
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Juvenile Hemochromatosis Type 2A in a Young Woman: Hypogonadism, Diabetes, and Osteoporosis
Case at a Glance Juvenile hemochromatosis, or hereditary hemochromatosis type 2A, is a rare autosomal recessive disorder driven by mutations in the HJV gene. The condition causes severe systemic iron overload with multiorgan involvement, frequently affecting endocrine and skeletal health. This case describes a 32-year-old woman who presented with secondary amenorrhea, progressive skin hyperpigmentation, arthritis,…