Hereditary Hemochromatosis Type 2A Presenting With Hypogonadism, Diabetes, and Osteoporosis in a Young Woman

Ajeesh Thulaseedharan, Puthiyaveetil Khadar Jabbar, Sandra Mosses
JCEM Case Reports, Volume 3, Issue 10, October 2025, luaf148
https://doi.org/10.1210/jcemcr/luaf148

Abstract

Hereditary hemochromatosis type 2A (juvenile hemochromatosis) is a rare autosomal recessive disorder caused by mutations in the HJV gene. It results in severe systemic iron overload and multiorgan dysfunction, including endocrine and skeletal manifestations. A 32-year-old woman presented with secondary amenorrhea, progressive skin hyperpigmentation, arthritis, and poorly controlled diabetes. Evaluation revealed hypogonadotropic hypogonadism, elevated serum ferritin (>2000 ng/mL), transferrin saturation of 93.8%, and osteoporosis (lumbar spine T-score −3.3; femoral neck −3.7). Magnetic resonance imaging showed iron deposition in the pituitary gland, liver, pancreas, and heart. Genetic testing confirmed a homozygous HJV mutation (c.1063G > T, p.Asp355Tyr). Management included weekly therapeutic phlebotomy (target ferritin ∼50 ng/mL), a basal-bolus insulin regimen, estrogen-progestin hormone replacement, and calcium/vitamin D supplementation. After 3 months, skin pigmentation lightened, glycated hemoglobin dropped from 8.5% to 7.8%, ferritin fell to 1294 ng/mL, and menstrual cycles resumed. This case emphasizes the importance of suspecting juvenile hemochromatosis in young patients with unexplained hypogonadism, diabetes, or osteoporosis. Early diagnosis and multidisciplinary treatment can prevent irreversible organ damage and improve long-term outcomes.

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