Endocrine Abstracts

AbstractBackground: β-cell apoptosis is a cardinal feature of type 1 diabetes. A20 is an important negative regulator of inflammation and apoptosis and protects against β-cell death in response to inflammatory cytokines, and β-cell rejection following islet transplantation1. Preliminary experiments showed rapid induction of A20 (15–60 min) in β-cells in response to treatment with TNFα. Experimenta...

Background: Cystic fibrosis is an autosomal recessive disease characterised by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The mutations alter fluid secretion in the lungs and digestive systems and the vast majority of patients die from pulmonary disease. CF-related diabetes (CFRD) is the most significant co-morbidity for patients with CF and accelerates lung decline. Recent evidence from animal and cell models has implicated a role for CF...

Hereditary hypercalcaemia can be a diagnostic challenge. We present a family with autosomal dominant hypercalcaemia that illustrates this. A 48-year-old man was referred with asymptomatic long standing hypercalcaemia (2.8–3.04 mmol/l), with plasma PTH levels between 45 and 48 ng/l (normal 15–65), and a high urinary calcium excretion, (24 h calcium collection 10.4 mmol/l (2.5–7.5), with high calcium excretion indexes) all consistent with primary hyperparathyroidi...

Background: Acute adrenal insufficiency is a life threatening condition. Signs and symptoms are often non-specific. The adrenal gland has the richest arterial supply of any tissue with limited venous drainage and this mismatch predisposes to haemorrhagic infarction. We present a case report of acute adrenal insufficiency due to bilateral adrenal haemorrhagic infarcts associated with an open ankle fracture.Case history: A 52-year man fell from a ladder su...

Langerhans cell histiocytosis is a disease caused by clonal proliferation of a group of antigen-presenting cells known as Langerhans cells. Its manifestations range from isolated lesions to multisystem disease usually involving bone, skin and the pituitary stalk. Thyroid involvement is rare.A 44-year old woman presented to the joint thyroid clinic with a short history of neck swelling, confirmed to be a smooth goitre on clinical examination. Initial bloo...

Insulin induced hypoglycaemia is a life threatening complication in T1DM. Sub-optimal counter regulatory response, with hypocortisolemia, threatens the recovery from insulin induced hypoglycaemia. We present a 28-year-old man with polyglandular autoimmune syndrome type 2 and life threatening hypoglycaemia, whose severe hypoglycaemic events were improved following introduction of CSII.The patient was diagnosed with Addison’s disease in 2000 and T1DM ...

Aim: In the thyrotoxicosis local investigation protocol, Tc99m pertechnetate scintigraphy technetium scan is used to assess the presence of thyroid uptake and both the degree and pattern of uptake. TSH receptor antibodies are used to demonstrate the presence and activity of autoimmune thyroid disease. We audited the utility of these investigations in a series of thyrotoxic patients.Methods: Forty-nine patients (11 men, 38 women, mean age 47.5±38) we...

In utero exposure of female lambs to testosterone affects ovarian function such that ovaries contain multiple, abnormally large antral follicles. This study characterises further the follicular and cellular abnormalities underlying excessive and prolonged large antral follicle growth. Pregnant Poll Dorset ewes were injected twice weekly (30–90 days of gestation) with 100 mg of testosterone propionate in 1 ml oil, while controls received vehicle injection only. Andr...

We present a 44-year-old female referred to us with a two year history of episodic palpitations, chest tightness, headaches and pallor associated with hypertension. She had previously been extensively investigated by neurologists and cardiologists including MRI of the brain, renal ultrasonography, 24 h tape and echocardiography – all normal. Given the history, a CT of the adrenals was performed in 2007 which revealed a 1.5 cm nodule in the right adrenal with abnormal enha...

Objective: To determine the vitamin D status in pregnancy and to evaluate the effects of daily and of single-dose vitamin D supplementation.Design: A prospective randomised study, in an inner city ante-natal clinic.Participants: Forty-five women in each of the four ethnic groups, Indian Asians, Middle Eastern, Black and Caucasian, were studied (incomplete delivery data at time of submission).Intervention: Wom...