Endocrine Abstracts

A 74 year old female presented with symptoms of recent fatigue, nausea and weight loss. No other symptoms were present. She had previously had a hysterectomy with conservation of both ovaries 30 years previously for fibroids. The rest of her history was unremarkable. No undue clinical findings were apparent on examination. Initial bloods revealed normal haematology, biochemistry and liver profiles. Corrected calcium was elevated at 3.07 millimoles per litre(2.1-2.6). Subsequen...

A 30 year-old man was assessed for gynaecomastia. He had been treated for GH deficiency from the age of 3 to 16. His non-consanguineous parents were of short stature (maternal height 1.22 m, paternal height 1.58 m), as was a half-sister (1.55 m). The patient’s height was 1.55 m with an arm span of 1.48 m and his BMI was 31. Testicular volume was 18 mL and secondary sexual characteristics were normally developed. Lipomastia was diagnosed and subsequently treated surgically...

We present three cases of metastatic medullary thyroid carcinoma who developed severe Cushing’s syndrome from ectopic production of ACTH by the tumour. Following total thyroidectomy and external beam radiotherapy, the patients had remained symptom-free for 4, 9 and 25 years after initial presentation despite the presence of widespread hepatic metastases. However, with the onset of Cushing’s syndrome, patients became unwell with severe muscle weakness and lethargy. Me...

A 66-year-old Caucasian male presented with polydipsia, profound weight loss, blood glucose of 29.1 millimoles per litre and mild acidosis. Urinalysis revealed no ketonuria. A mild acidosis was also identified. A bronzed skin appearance was noted which together with deranged liver function raised suspicions of haemochromatosis in conjunction with newly diagnosed diabetes. Initial treatment involved rehydration, intravenous then subcutaneous insulin therapy. Subsequent abdomina...

A 66-year-old Caucasian male presented with polydipsia, profound weight loss, blood glucose of 29.1 millimoles per litre and mild acidosis. Urinalysis revealed no ketonuria. A mild acidosis was also identified. A bronzed skin appearance was noted which together with deranged liver function raised suspicions of haemochromatosis in conjunction with newly diagnosed diabetes. Initial treatment involved rehydration, intravenous then subcutaneous insulin therapy. Subsequent abdomina...

Background: The 24-hydroxylase enzyme is responsible for the degradation of 1,25-dihydroxyvitamin D3. Loss of function mutations of the gene encoding 24-hydroxylase, CYP24A1, may cause hypercalcaemia, nephrolithiasis and nephrocalcinosis, and are responsible for some cases of idiopathic hypercalcaemia of infancy.Case: The index case presented with faltering growth at 4 months old. She was hypercalcaemic with serum calcium 2.79 mmol/l (normal r...

A 53-year-old gentleman was seen following a recent diagnosis of type 2 diabetes in May 2009. He had suffered a subarachnoid haemorrhage in 1993 and remained under the local tertiary centre after developing secondary hypogonadism treated with testosterone replacement. The cause had never been established.The patient had previously been diagnosed with seronegative HLA B27 arthropathy and in December 2008 was admitted with acute cardiac failure and atrial ...

The mitochondrial enzyme 25-hydroxyvitamin D(sub)3 1-alpha-hydroxylase plays an important role in the synthesis of active 1,25-dihydroxyvitamin D(sub)3 in both renal and extra-adrenal tissues such as granulamatous tissue. There is an increased expression of 1-alpha-hydroxlase in sarcoidosis. This can result in hypercalcaemia secondary to elevated 1,25-dihydroxyvitamin D(sub)3.We present a case of a 81 year old retired GP with long-standing hypercalcaemia associated with a ...

Background: Untreated adult growth hormone deficiency (AGHD) is associated with hypertension, obesity and hyperleptinemia. Leptin is linked to obesity related hypertension, is secreted in a circadian rhythm and may contribute to the regulation of BP circadian rhythmicity.Methods: We studied the relationship between plasma leptin (half hourly samples), ambulatory systolic BP (SBP), diastolic BP (DBP) and mean arterial pressure (MAP) over a 24-h period in ...