Endocrine Abstracts

Kyphosis is a common spinal disorder affecting up to 8.3% of the population, and associated with significant morbidity. Familial and twin studies have implicated a genetic involvement. However, the causative genes have not been identified. Studies investigating the underlying molecular mechanisms are hampered by genetic heterogeneity, small families and variable modes of inheritance displayed by different kindreds. To overcome these limitations, we investigated 12 week old pro...

Kyphosis and scoliosis are common spinal disorders that lead to significant morbidity in childhood, adolescence and adulthood. Familial and twin studies have implicated a genetic involvement, although the causative genes remain to be identified. To facilitate these studies, we investigated 12-week-old progeny of mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) using phenotypic assessments that included dysmorphology, radiography and dual-energy ...

Over recent years, the numbers of commercially available slimming aids have increased dramatically. Whilst the majority of these aids are harmless, their interaction with normal physiology is either not understood or not brought to the attention of the customer. We report the case of a 45-year-old woman who presented with clinical and biochemical thyrotoxicosis (fT4 31.5 pmol/l, fT3 14.3 pmol/l, TSH <0.02 mIU/l). She had elevated TPO antibodies (51 IU...

The ERCUSYN (European Registry on Cushing’s syndrome (CS)) study is a project funded by the European Commission Public Health Program (PHP 800200), of which the ESE is one of the 41 Partners from 25 countries. The aims include obtaining prospective and follow-up data at EU level on epidemiology, mortality, outcome of therapies, co-morbidities, assessment of diagnostic and therapeutic strategies, quality of life evaluation using a disease-generated questionnaire (CushingQo...

Objective: The LH and chorionic gonadotropin (CG) are essential for reproduction and male sexual development. While LH induces tesosterone production, CG is essential for the establishment of pregnancy. In the New World Monkeys (NWM) the initial duplication of the ancestral LH-beta subunit (LHB) gene, which gave rise to the novel CG-beta subunit (CGB) gene, was followed by a genomic rearrangement event, leading to CGB expression in pituitary and placenta, whereas LHB became a ...

CYP11B1 and CYP11B2 are responsible for the final steps in cortisol and aldosterone synthesis, respectively, in human. These two genes share 95% identity in coding regions and 90% identity in introns, but have very dissimilar promoter regions. To investigate whether there is a regulatory link between human CYP11B1 and CYP11B2 genes, we analyzed their upstream sequences using a pattern-search program termed multiple index sequence alignment. Three co...

Background and aims: The fat mass and obesity associated gene (FTO) was identified as a gene with strong obesity related traits nevertheless the exact mechanism is still unknown. Our aim was to study the possible effects of FTO risk haplotype on anthropometric data and metabolic and hormonal parameters in lean women (to eliminate the influence of BMI) and to evaluate the effect of hormone contraception (HC).Materials and methods: The SNPs r...

Protein kinase C (PKC) is a key enzyme which regulates proliferation, apoptosis and differentiation, representing a pharmacological target for tumor therapy. PKC is a serin/threonin kinase involved in the control of neoplastic transformation, carcinogenesis, neoplastic invasion, chemoresistance. The role of PKC depends on the tissue and on the specific isoform, among the 11 identified so far. In particular, PKC beta II inhibits cell functions, while PKC delta has a protective ...

Background: The thyroid isthmus contains no C-cells, thus we established IPTB for cases with nodular goiter and moderate hypercalcitonemia (stimulated up to 350 pg/ml). In these cases C-Cell-Hyperplasia is the primary pathologic correlate. Exclusion criteria were pre- or intraoperative signs of malignancy.We furthermore established IPTB as a prophylactic operation for patients with hereditary medullary thyroid carcinoma, excluding high-risk mutations.</p...

Primary hyperaldosteronism usually results from an aldosterone-secreting adenoma of the adrenal cortex (Conn’s adenoma) or bilateral adrenal hyperplasia. Identification of the anatomical adrenal lesion causing hyperaldosteronism typically involves CT or MR scanning, with lateralisation of aldosterone production confirmed by adrenal vein sampling (AVS). The latter is a technically difficult and invasive procedure, but current non-invasive alternatives (e.g. radiolabelled i...