All patients with ‘idiopathic’ hypopituitarism should be screened for hemochromatosis

Abstract

Hypopituitarism usually occurs as the result of a pituitary tumour or as a consequence of its treatment. If, however, pituitary imaging is negative then an alternative diagnosis should be sought. Patients are often diagnosed as having idiopathic hypopituitarism when imaging is normal. Our objective is to highlight the importance of screening for hemochromatosis in patients with presumed 'idiopathic' hypopituitarism. Our patients presented initially with biochemical hypopituitarism and, after initial investigation and normal imaging, were labelled as having idiopathic disease. They subsequently developed iron overload in cardiac and hepatic tissue respectively requiring regular venesection to deplete body stores. Genetic analysis revealed homozygosity for the C282Y mutation in our first patient thus explaining his more severe iron overload whereas our second case was a heterozygote for the same mutation, with iron overload confirmed on liver biopsy. We recommend that iron studies are performed in all patients who present with hypopituitarism and normal pituitary imaging. This may lead to reversal of the hypopituitarism and avoid development of any systemic consequences of hemochromatosis.

Panhypopituitarism Due to Hemochromatosis

“…The differential diagnosis should be made; otherwise the treatment might be delayed. Therefore, in consistent with Lewis et al, we recommend that iron studies are performed in all patients who present with hypopituitarism and normal pituitary imaging (5).…”

Hypopituitarism Presenting as Adrenal Insufficiency and Hypothyroidism in a Patient with Wilson's Disease: a Case Report

“…Hypopituitarism refers to decreased secretion of pituitary hormones as a result of abnormalities in the pituitary itself or the hypothalamus ( 3 ). It usually occurs due to a pituitary tumor or as a consequence of its treatment, and symptoms vary depending on which hormone is deficient ( 3 ).…”

“…Hypopituitarism refers to decreased secretion of pituitary hormones as a result of abnormalities in the pituitary itself or the hypothalamus ( 3 ). It usually occurs due to a pituitary tumor or as a consequence of its treatment, and symptoms vary depending on which hormone is deficient ( 3 ). Other causes include pituitary apoplexy, Sheehan's syndrome, stroke, traumatic brain injury, cerebral hemorrhage and infiltrative diseases such as sarcoidosis or hemochromatosis which are relatively rare and are often wrongfully labeled as idiopathic since imaging is usually normal ( 3 4 ).…”

“…It usually occurs due to a pituitary tumor or as a consequence of its treatment, and symptoms vary depending on which hormone is deficient ( 3 ). Other causes include pituitary apoplexy, Sheehan's syndrome, stroke, traumatic brain injury, cerebral hemorrhage and infiltrative diseases such as sarcoidosis or hemochromatosis which are relatively rare and are often wrongfully labeled as idiopathic since imaging is usually normal ( 3 4 ). In our case, hormone studies were consistent with secondary adrenal insufficiency and hypothyroidism due to hypopituitarism which we concluded to be associated with Wilson's disease, since no other definite cause or coexisting disease was found.…”

Anterior Pituitary Failure

“…Hereditary hemochromatosis is an autosomal recessive disorder and is a rare cause of hypopituitarism [37]. Excessive absorption of dietary iron leads to iron overload.…”