Endocrine Abstracts

Introduction: Bardet-Biedl Syndrome (BBS) is an autosomal recessive disease and one of the most common causes of syndromic obesity. An excessive weight usually appears at an early age and affects almost 90% of patients. Mutations in BBS genes have been found to disrupt the function of the cilia, leading to disturbances of transduction satiety and hunger signals in hypothalamus and increased adipogenesis in the fat tissue.Methods: We present a case series...

The GNAS locus (chromosome 20q13) yields multiple transcripts, including the stimulatory G protein subunit α (Gsα), NESP55, GsαXL and two noncoding RNAs, the GNAS1A-transcript (A/B) and the antisense transcript (AS). The corresponding promoters show a complex methylation pattern resulting in an allele-specific imprinting, with maternal expression of NESP55 and paternal expression of GNAS1A, GsαXL and AS. Gsα in most tissues is derived from both alleles...

Background: The growth hormone system (growth hormone, GH and insulin-like-growth-factor I, IGF-I) might be implicated in congestive heart failure (CHF). In experimental models IGF-I increases cardiac contractility and reduces apoptosis of myocytes exposed to ischemic injury. In clinical studies GH-therapy has been used in CHF. One previous population based investigation showed that low levels of IGF-I was associated with an increased incidence of CHF. The result of this inves...

The melanocortin system plays a significant role in the hypothalamic regulation of body weight and energy expenditure. Prolonged central administration of the melanocortin receptor 4 (MC-4) agonist ACTH(4-10) reduces body weight in animals and humans by increasing energy expenditure and by reducing food intake. The aim of this study was to investigate the effect of intranasally administered alpha-MSH on local lipolysis in subcutaneous adipose tissue and on sympathetic nerve ac...

Inactivating germline mutations in the HRPT2 tumor suppressor gene are the cause of the hyperparathyroidism-jaw tumor syndrome (HPT-JT). The most common feature of HPT-JT is primary hyperparathyroidism, followed by ossifying fibromas of the maxilla and mandible, renal cysts and solid tumors. As recently recognized, mutations of this gene also play a central role in the molecular pathogenesis of parathyroid carcinoma.A 19-year-old woman presented with a g...

Context: Clinical studies are needed to classify rare and novel RET mutations associated with hereditary medullary thyroid carcinoma (MTC) into one of three clinical risk groups.Objective: We analyzed genotype–phenotype correlations associated with the RET protooncogene mutation R770Q in exon 13 which was detected simultaneously with a Y791N mutation in the same family.Results: Calcitonin determination in a 43-year-old female ...

Two dominant inherited disorders of phosphate homeostasis, X-linked hypophosphatemia (XLH), and ADHR are known to be caused by inactivating mutations in the PHEX gene or activating mutations in the FGF23 gene (fibroblast growth factor 23), respectively. Both diseases show a similar phenotype with renal phosphate wasting and inappropriately normal or low 1,25-(OH)2-Vitamin D3 serum levels, leading to hypophosphatemic rickets and osteomalacia. The different...

Background: Surgery of the pituitary gland is increasingly being performed through an endoscopic approach. We report the results of the first 26 patients after transition from microsurgery to endoscopic transsphenoidal surgery at our institution.Methods: Medical records of 26 consecutive patients (13 females) with a median age of 59 years who underwent endoscopic transsphenoidal surgery by a single surgeon from 2008 to 2010 and had a follow-up of at leas...

Introduction: α-Defensins are recently described peptides, which are part of the innate immune system. Increased circulating levels are observed in conditions associated with chronic low grade inflammation, such as ischemic heart disease and in diabetes mellitus (DM). Recently we reported adverse prognostic implications of high α-defensins in patients with type 1 DM. However, it is not clear whether this finding may be generalized to include other groups such as pati...

A 58-year-old male patient presented with a 2 months history of bilateral frontotemporal headache, fatigue and impaired vision. Further exploration revealed short term memory losses, confusion, gait disturbances, decreased libido and erectile dysfunction. Radiological investigation showed a 4 cm pituitary mass with destruction of the upper clivus and left petrous apex associated with a 5 cm large suprasellar cyst bulging upward into the 3d ventricle with obstruction hydrocepha...