ArticleJCEM case reports2026
Delayed diagnosis of juvenile hemochromatosis due to missed ferritin testing in a case of hypogonadotropic hypogonadism.
Article in JCEM case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Juvenile hemochromatosis (JH) is a rare disorder caused by iron metabolism errors that lead to severe iron loading and organ failure in young adults before 30 years of age. We report a challenging case of a 26-year-old female whose diagnosis was delayed by nearly a decade due to deceptively nonspecific symptoms. She initially presented with oligomenorrhea at age 18 and was misdiagnosed with polycystic ovary syndrome (PCOS). Subsequent work-up for primary infertility revealed idiopathic hypogonadotropic hypogonadism (IHH). She progressively developed insulin-dependent diabetes mellitus and life-threatening sudden heart failure, necessitating an urgent cardiac transplant. Genetic evaluation confirmed JH (type 2A), identifying a homozygous likely pathogenic variant in the hemojuvelin (
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