Endocrine Abstracts

We are investigating mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) to establish models for hereditary bone disorders such as osteoporosis, osteoarthritis and skeletal dysplasias. We report on one such mouse model designated Longpockets (Lpk). Mice were kept in accordance with national welfare guidelines and project license restrictions. Lpk/+ mice are viable and fertile, present with short humeri by two weeks of birth and have a...

Bone mineral density (BMD) is a highly heritable trait. We sought to investigate site and gender specificity of BMD inheritance in general pedigrees.Probands with primary osteoporosis and low BMD relative to an age- and sex- matched cohort (z-score <-2.0 at either lumbar spine (LS) or femoral neck (FN)) were identified from the Nuffield Orthopaedic Centre (Oxford UK) (45 male, 102 female). All available first- and second-degree relatives were recrui...

Thyroid eye disease usually occurs in patients with graves'hyperthyroidism although 5-10% of patients are euthyroid or are hypothyroid with positve TSH receptor binding antibodies. We describe a patient with primary hypothyroidism for 14 years prior to the onset of severe thyroid eye disease.A 61 year old lady with thyroid opthalmopathy was seen in the eye clinic.Previous history included diet controlled diabetes and primary hypothyroidism, adequately r...

Background: Approximately 1000 children per annum born small for gestational age (SGA) will fail to catch-up and become eligible for GH treatment. The reason for this failed growth is often not defined. Understanding mechanisms that cause growth failure in SGA and finding potential biomarkers of poor growth is therefore important. We are using the new technique of Metabolomics as one avenue to address this. Metabolomics is the quantification of small molecule metabolites in a ...

There is evidence that an unbalanced maternal diet, combining a high ratio of protein to carbohydrate with low intakes of folate and green vegetables imposes a metabolic stress on the mother and fetus leading to fetal growth retardation. Because recent studies have shown that high protein maternal diets are associated with raised offspring blood pressure, we have assessed whether this form of unbalanced maternal nutrition is also associated with glucose intolerance.<p clas...

Background: Consumption of a high-meat, low carbohydrate diet in late pregnancy is associated with fetal growth restriction, and raised blood pressure and glucose intolerance in the offspring. In a recent study in Motherwell, Scotland, where pregnant women had been advised to eat one pound (0.45 kg) of red meat per day during pregnancy and to avoid carbohydrate-rich foods, we found elevated fasting plasma cortisol levels in men and women whose mothers reported higher protein c...

Investigations of bone disorders which are often inherited have yielded important insights in the molecular mechanisms of bone development, osteoporosis and osteoarthritis. However, these studies have been hampered by the lack of available patients and affected families. To overcome this limitation, we have investigated mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) for hereditary bone disorders. Mice were kept in accordance with national welf...

Background: Glucorticoids can affect blood pressure in humans, as demonstrated most strikingly in Cushing’s syndrome. We have previously reported that total cortisol metabolite excretion is raised in obese subjects, while other investigations have identified genetically determined changes in glucocorticoid receptor function as contributors to hypertension. Furthermore, in essential hypertension, vasoconstrictor sensitivity to glucocorticoids is increased. Such raised sens...