Endocrine Abstracts

Background: Hereditary Haemochromatosis causes iron build up in various organs. Endocrine organs are a known target for iron accumulation, secondary only to the liver. Hypoparathyroidism from parathyroid involvement is a rarely recognised entity with its mechanism still not fully understood.

Case Description: We report a case of a 38-year old, otherwise fit and well, male diagnosed with hereditary haemochromatosis due to family screening managed with regular venesections, which kept his iron levels well controlled. Upon his endocrine referral for hypogonadal symptoms 7-years after diagnosis of HH, work up revealed an isolated central hypogonadism picture with a pituitary MRI that was within normal limits. Incidentally, he had a background of unexplained and longstanding paresthesia of his upper limbs that had been deemed to be anxiety related after neurology review and work up. In the context of this and low normal serum calcium over many years and with a previous renal work up for mild Chronic Kidney Disease returning inappropriate and low PTH, a clinical diagnosis of primary hypoparathyroidism was considered. He was empirically supplemented with activated vitamin D, which improved his biochemistry and paresthesia symptoms. Given the absence of any previous neck surgery or clues to etiology, primary haemochromatosis was speculated as the underlying cause of his primary idiopathic hypoparathyroidism.

Conclusion: This case highlights the incidental presence of two endocrinopathies in a patient with hereditary haemochromatosis, with otherwise well controlled iron. This reminds clinicians that well controlled haemochromatosis still leaves people with unmet needs, which should prompt us to look for concomitant pathologies. Hypoparathyroidism is one of the pathologies that is not recognised as a haemochromatosis relation.