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Endocrine Abstracts (2015) 38 P241 | DOI: 10.1530/endoabs.38.P241

Salford Royal Hospital, Manchester, UK.


A 53 year old man, without any previous medical history, presented acutely to the Accident and Emergency Department with a 5 day history of vomiting and abdominal pain on a background of weight loss, fatigue, polyuria and polydipsia for 4 weeks. On examination he was obviously tanned and thin. He was clinically dehydrated and had palpable hepatomegaly. Immediate biochemical testing revealed hyperglycaemia with a venous blood glucose of 20.7 mmol/l, a metabolic acidosis with a pH of 7.1 (and venous bicarbonate of 11.3 mmol/l) and significant ketonuria (++++) thus confirming the clinical suspicion of diabetic keto-acidosis (DKA). His serum ferritin levels were markedly raised at 11346 ug/l with a raised transferrin saturation of 92%. His initial basal pituitary function showed evidence of partial anterior hypopituitarism. This was manifest by hypogonadotrophic hypogonadism with an FSH of <1 IU/l (2–12),LH of <1 IU/l (2–9) and testosterone of 0.5 nmol/l (9–29). He also had evidence of secondary hypothyroidism (TSH 2 mU/l (0.27–4.2) and free T4 9 pmol/l (12–22)) though his cortisol levels were physiological (820 nmol/l at 9 am). He was treated with intravenous fluids and insulin initially and this was later converted to subcutaneous insulin therapy. His HFE gene testing proved positive with him being homozygous for the C282Y mutation thus confirming the diagnosis of Hereditary Haemochromatosis (HH). HH is a disorder of iron metabolism with iron deposits in different organs including within the endocrine system. Although diabetes is a common association of HH, it is unusual for patients to present with DKA. This case serves to highlight this very issue thus serving as a reminder to be aware of potential causes of secondary diabetes when assessing patients with DKA. It also aims to demonstrate the multi-gland nature of the endocrinopathy encountered by patients with HH.

Volume 38

Society for Endocrinology BES 2015

Edinburgh, UK
02 Nov 2015 - 04 Nov 2015

Society for Endocrinology 

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