Endocrine Abstracts

Introduction: Glucocorticoid replacement therapy uses twice or thrice daily regimens of hydrocortisone (HC) with variable distribution of the dose over the day. Deconvolution analysis determines the mass of hormone that needs to be secreted to attain a particular serum concentration. We have used this methodology to determine the amount and distribution of cortisol over a 24 h period.Methods: Seventy-nine adults (41M) aged 60–74 years and 30 childre...

Introduction: Neonatal diabetes mellitus is a rare condition with an estimated incidence of 1 in 400 000 live births in the UK population. Half of these cases will have permanent neonatal diabetes mellitus (PNDM). We report a homozygous missense mutation (R397L) in the glucokinase (GCK) gene which is associated with PNDM, in an infant from a consanguineous Asian family.Case report: The baby was born with a birth weight of 1.68 kg at 38 weeks gesta...

A 31-year-old male presented to A&E with confusion, lethargy, polyuria and blurred vision. The previous month he had been diagnosed with diabetes and started on metformin by his GP. On examination he was cachectic (BMI 17 kg/m2), dehydrated and hypotensive (88/56). Baseline investigations revealed a metabolic acidosis (pH 7.30), with capillary glucose 20 mmol/l and moderate ketonuria. Treatment for diabetic ketoacidosis was commenced. Further results revealed he...

Introduction: The Autoimmune Polyendocrinopathy Syndromes (APS) comprise 4 clinical subtypes (1–4), APS type 1 is an autosomal recessive disorder caused by mutations in the AIRE (Autoimmune Regulator) gene. It should include at least 2 of the following 3 major criteria: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HPT) and adrenal insufficiency (AI) although 50% of patients develop all 3 features, usually before the age of 20 years. In addition, there are ...

Background: Obesity is a disease with disastrous health, social and economic consequence. There is presently a global epidemic of obesity in all age groups and in both developed and developing countries. Understanding the nutrient and chemical sensing mechanisms in the gastro-intestinal tract (GIT) which act to trigger gut hormone release and appetite after food consumption is crucial to be able to devise effective methods to reduce and prevent obesity. Recently, the sweet tas...

Background: Sucrose intake has been shown to normalize the disturbed neuroendocrine stress response in adrenalectomized rats. These previous data indicate a compensatory effect of energy supply on altered parameters in chronic cortisol deficiency. Thus, we hypothesized that glucose infusion may have similar beneficial effects in patients with Addison’s disease.Methods: We examined 10 patients with primary adrenal insufficiency who discontinued their...

Obesity, diabetes, and depression are associated with distinct neuroendocrine changes influencing the regulation of the hypothalamus pituitary adrenal (HPA) system. Up to now it was not possible to examine the central glucocorticoid feedback in humans to verify results of animal experiments in relating disease models. With the help of a recently developed computational approach we were enabled to address this question to patients with obesity, diabetes, or depression.<p cl...

During early embryogenesis, the olfactory axons and gonadotrophin-releasing hormone(GnRH)-secreting neurons undergo dynamic processes of differentiation, migration and proliferation, regulated by a complex network of molecular and cellular mechanisms responding to various hormonal and developmental signals. Mutations in anosmin-1 and FGFR1 disrupt this pathway, causing Kallmann's syndrome(KS), a human hereditary disorder with GnRH deficiency and inability to smell. A primary n...

Mouse distal Chromosome 2 has a proximal region containing a single imprinted gene, Neuronatin, Nnat. In situ hybridisation has shown strong expression of neuronatin in the embryonic mouse Rathke's pouch and primordial anterior pituitary (Wijnholds et al 1995, Dev Biol 171:73-84) and has been proposed to participate in pituitary development. Uniparental maternal inheritance of the proximal region leads to decreased folding of the cerebellum (Kikyo et al 1997, Dev Biol 190:66-7...

Objective: To determine the 24hour thyroid hormone profile on patients with combined T3/T4 therapy.Methods: Two subgroup of patients (10 on combined T3/T4 (study, S) and 10 T4 alone (control, C) were randomly selected from 697 patients who were already involved in WATTS study, after ethical approval. Prior to study entry all patients were on 100micrograms or more of T4. The study group received 10micrograms of T3 in place of 50micrograms of T4 while the ...