Annals of Tropical Medicine and Public Health | 2021
Hemochromatosis Induced Selective Primary Pituitary Failure: A case report
Abstract
Hemochromatosis is a inherited disorder characterized by toxic accumulation of iron in parenchymal cells of the liver, heart, endocrine glandswith normal iron driven erythropoiesis [1] caused by a mutation that affects one of the proteins that limit iron entry into the blood.Hereditary hemochromatosis (HH) resulting from HFE gene mutation is the most common form. Four other forms of non-HFE hemochromatosis include a juvenile form, mutant genes of transferrin receptor 2 (TfR2), hemojuvelin (HJV),ferroportin 1 (IREG 1 or MTP 1) and the iron responsive element (IRE) of the ferritin H subunit [1] .Ferroportin disease often mentioned as Type 4 hemochromatosis occurs in late adulthood. Secondary iron overload conditions are equally important while ruling out genetic etiology of hemochromatosis.Hypogonadism and cardiac involvement are seen more frequently in younger patients less than 30 years of age mostly males compared with older patients, whereas diabetes,cirrhosis, liver involvementand skinhyperpigmentation are seen less frequently [2] . Hemochromatosis is an unusual but well-defined cause of hypogonadism [3,4] . Hypogonadism is rare in females when compared with males.A 32 yr old female presented with decompensated chronic liver disease with recurrent episodes of hepatic encephalopathy past 6 months with amenorrhoea and primary infertility. Investigations proved it to be a case of hemochromatosis. We report this case as a rare phenotypic presentation of hemochromatosis during adulthood, where the presentation was cirrhosis with decompensation,with hypothyroidism and hypogonadism suggestive of selective primary pituitary failure.