Endocrine Abstracts

Performance enhancing substances enjoy considerable popularity among athletes, particularly if deemed undetectable. Doping with growth hormone has been considered undetectable until recently. Two strategies have been pursued to detect GH doping: Pharmacological endpoints and GH isoform composition.For the former approach the consortium GH 2000/2004 has identified markers of GH action and found a combination of parameters from the IGF-system and collagen ...

Background and aim: Parathyroid hormone (PTH) measurement is critical to evaluate bone status in patients with chronic renal failure as adynamic bone (AB) and bone with a high turnover (HTB) require different therapeutic options. Since the 2nd generation PTH assays recognise a non 1–84 PTH fragment in addition to the intact 1–84 PTH, a new assay defined as 3rd generation has been commercialised. The aim of this study was to evaluate, in dialysed patients, the rate of...

Background: Invasive pituitary tumors may behaviour like some pituitary carcinomas. Although invasiveness is not indicative of malignancy, it probably puts the patient at higher risk of developing a pituitary carcinoma. These are very rare and the diagnosis requires evidence of metastatic disease, either cerebrospinal or extracranial. Although de novo development cannot be excluded they usually present as typical pituitary adenomas, which reveal their malignant characte...

49,XXXXY syndrome is a rare defect of sex chromosomes frequently labelled as Klinefelter variant. It is associated with more severe dysmorphic features, hypogenitalism and mental retardation.The goal: To describe clinical, biochemical, hormonal, radiological and developmental status of the patient with 49,XXXXY karyotype.Report of the patient: 12-month-old boy referred because of underdeveloped genitalia. The patient was born by ca...

Addison’s disease is notoriously difficult to diagnose and has been labelled ‘the master of unforgiving disguise’. In the largest international survey of autoimmune Addison’s disease to date (N=613), we asked patients to recall their symptoms at diagnosis. The results confirm the challenges of diagnosis, in that no patients recalled all the standard symptoms.Hyperpigmentation with dizziness on standing/blackouts and weight loss...

Understanding the molecular factors that regulate human muscle mass is acquiring increasing scientific interest. Hitherto, known (+ve) endocrine regulators of lean body mass included the GH-IGF-1 system, anabolic steroids, and (−ve) myostatin. In order to elucidate this process further, we have investigated a clinical case at a genetic and phenotypic level. A 46-year-old man with idiopathic muscle hypertrophy requiring multiple therapeutic fasciotomies underwent clinical...

Animal and clinical models of GHRH excess suggest that GHRH provides an important trophic drive to pituitary somatotrophs. Mice in which GHRH neurons have been ablated using a novel viral ion channel transgene (GHRH-M2 mice) show marked anterior pituitary hypoplasia and GH deficiency although GH cells are present. GHRH-M2 mice are also deficient in prolactin which is surprising as GHRH has little or no direct effect on PRL synthesis or release (Le Tissier, Mol Endo 19). In mic...

It is suggested that estrogen hormones involve pathways controlling histone acetylation to brought about their effects in the uterus. However, it is not known how the level of histone acetylation affect estrogen-dependent processes in the uterus, especially proliferation and morphogenetic changes. Therefore, effects of histone deacetylase blockers, trichostatin A and sodium butyrate, on proliferative and morphogenetic reactions in the uterus under long-term estrogen treatment ...

The melanocortin-2 receptor accessory protein (MRAP) is a type I integral membrane protein that is required for cell surface expression of the melanocortin 2 receptor (MC2R). Mutations in the N-terminal region of this protein are associated with familial glucocorticoid deficiency type II (OMIM#607398).Here we have investigated the expression and biochemical properties of MRAP using polyclonal antibodies to a conserved peptide sequence in the N-terminal r...

Performance enhancing substances enjoy considerable popularity among athletes, particularly if deemed undetectable. Doping with growth hormone has been considered undetectable until recently. Two strategies have been pursued to detect GH doping: Pharmacological endpoints and GH isoform composition.For the former approach the consortium GH 2000/2004 has identified markers of GH action and found a combination of parameters from the IGF-system and collagen ...