Endocrine Abstracts

Thyroid hormone receptors are ligand dependant transcription factors. They mediate a genomic response initiated by the thyroid hormone triiodothyronine, T3.In mice and humans two isotypes, TRα and TRβ, are produced from two different genes, and several isoforms of each isotype are present in the tissues. The knock out of either TRα or TRβ genes induces different phenotypes and several studies led to the conclusion that the TRα re...

Medullary thyroid carcinoma (MTC) is a neuroendocrine tumour of the parafollicular cells of the thyroid gland accounting for 5–15% of thyroid carcinomas. Most medullary thyroid carcinomas occur sporadic while up to 25% are familial as part of the multiple endocrine neoplasia type 2 (MEN-2). Most of the carcinomas have already metastasized at the time of detection. Surgical therapy is the treatment of choice in patients with MTC, both for patients with the familial and the...

Aldosterone is a key cardiovascular hormone in the development of hypertension and in the evolution of heart failure. Recent studies have suggested that Primary Aldosteronism may be present around 10% of patients with high blood pressure, although the precise definition of the syndrome remains uncertain. Nevertheless, it is clear that dysregulation of aldosterone production is a common clinical phenotype in cardiovascular disease. The majority of patients with aldosterone exce...

J Connell, University of Glasgow, Glasgow, United Kingdom Abstract John Connell graduated in medicine from the University of Glasgow (with commendation) in 1977. After initial general medical training he was appointed Registrar in Endocrinology in the Western Infirmary, Glasgow; in 1983 he became Clinical Scientist within the MRC Blood Pressure Unit and Senior Registrar in Endocrinology. In 1986 he was awarded a ...

Epidemiological evidence suggests that an adverse fetal environment permanently programmes physiology leading to increased risks of cardiovascular, metabolic, neuroendocrine and psychiatric disorders in adulthood. Prenatal glucocorticoid excess might link fetal maturation and adult pathophysiology. In a variety of animal models, prenatal stress or exposure to synthetic glucocorticoid which cross the placenta reduces birth weight and causes permanent hypertension, hyperglycaemi...

The phenotypic similarities between patients with Cushing’s syndrome and obesity have highlighted the potential pathogenic role of glucocorticoids in obesity / metabolic syndrome. However circulating cortisol levels in these conditions are normal. At a tissue specific level, the enzyme 11β-hydroxysteroid dehydrogenase (11β-HSD) controls cortisol availability to the glucocorticoid receptor (GR). In liver and adipose tissue, the type 1 isoform alone is expressed (...

In 1981, study of the adrenal findings in 4 cases of Cushing syndrome caused by an unusual bilateral adrenal disorder led to characterization of a unique pathologic condition that was termed primary pigmented nodular adrenal disease (PPNAD). Review of the literature showed that the disorder had occurred in 19 patients, including 6 siblings from 2 families. In 1 family, the disorder occurred in 2 siblings; a third sibling, one without Cushing syndrome, died of cardiac myxoma. T...

The past decade has seen significant advances in our understanding of the molecular mechanisms of pituitary development and function. However, relatively few gonadotrope specific factors have been identified to date. Through characterization of patients with endocrine disorders as well as transgenic mice, it has emerged that the nuclear receptor transcription factors SF-1 and DAX-1 play an important role in the regulation of gonadotrope activity. SF-1 (NR5A1) activates multipl...

Growth hormone (GH) is secreted throughout life - albeit in diminishing quantities with age. Its many different physiological actions have been known since the classical work of Maurice Raben in the late fifties. However, due to lack of the hormone, replacement therapy was for many years restricted to the pediatric treatment of growth disorder, and its place in medicine became tightly connected with growth, and growth alone. Since the mid eighties natural sequence GH have been...

Thyroid disease - hyper- and hypothyroidism, together with goitre and thyroid cancer - is extremely common. The familial clustering of autoimmune diseases such as Graves' hyperthyroidism illustrates the genetic contribution to susceptibility; we have described advances in understanding of the role of the CTLA4, HLA and other immune response genes in this susceptibility. We have shown that hyperthyroidism results in increased mortality, especially from vascular disease. Develop...