Delayed diagnosis of juvenile hemochromatosis due to missed ferritin testing in a case of hypogonadotropic hypogonadism.

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 (HJV) gene c.1006G > T (p.Gly336Ter), reported in only 4 cases within the Indian population. This case underscores a critical clinical lesson: the simple failure to perform a routine, inexpensive ferritin test can allow JH to slip until it causes fatal multi-organ damage. We conclude that any young patient presenting with type D PCOS (non-hyperandrogenic), IHH, young-onset heart failure, or atypical diabetes must be screened for iron overload even in the absence of classical symptoms to prevent irreversible consequences. Early genetic testing should be considered.