Endocrine Abstracts

Myotonic Dystrophy is an autosomal dominant multi-system disorder characterised by muscle weakness and myotonia, with associated cardiac, ophthalmic, gastrointestinal and endocrine abnormalitiesA 16-year-old boy was referred with a 2 months history of difficulty releasing his hand-grip and problems with swallowing. The clinical diagnosis of myotonic dystrophy 1 was confirmed with genetic testing with the detection of a DMPK expansion mutation. During inv...

Neurological complications of thyroid disease are well recognised; however the distinct clinical entity of encephalopathy associated with autoimmune thyroid disease has been only occasionally reported in the paediatric population. We describe a case of Hashimoto’s encephalopathy (HE) in a teenage girl.A 13-year-old girl presented with seizures and prolonged confusion. Baseline blood tests, CSF analysis and CT Brain were essentially normal. She was d...

Children with congenital hypothyroidism (CH) due to anatomical defects (AD) have different thyroid hormone levels at presentation from those with dyshormonogenesis (DH). We set out to explore these differences at initial presentation and at follow up. We also compared calcitonin levels and growth in these subjects with healthy controls. Data for the CH children were collected from hospital notes for birth weight, gestation, sex, initial laboratory thyroid function, starting do...

Glucocorticoids (GCs) are the most potent anti-inflammatory agents known and are used extensively in the treatment of inflammatory disease, however an individuals response to therapy varies greatly. Resistance to GC is often attributed to mutations within the glucocorticoid receptor (GR) through which GC elicit their effects. Here, we present a kindred with GR haploinsufficiency yet no clinical phenotype. PCR and GR sequence profiling of genomic DNA isolated from patient blood...

Small cell lung cancer (SCLC) is an aggressive neuroendocrine tumour that shows early metastasis and resistance to chemotherapy. Current biomarkers focus on prognosis and diagnosis but there is a need to find novel biomarkers, which could, for example, identify patients at risk of cerebral metastases.Pro-opiomelanocortin (POMC), the precursor of ACTH is a well-recognised biomarker of the ectopic ACTH syndrome1, of which SCLC is the most preval...

Background and objective: Adaptive process to hypoxia of altitude involves changes in the homeostatic steady state of several endocrine variables which precede and contribute- to many physiologic adaptations. Physiologic responses to altitude-stress exhibit ethnic variation. However, there has been limited characterization of ‘ethnicity effect’ on endocrine responses to high-altitude stress. This is true for enzyme-immunoassay method (EIA) of plasma hormone analysis....

Glucocorticoids (Gcs) act via the intracellular glucocorticoid receptor (GR) to regulate cellular homeostasis. GR is a ligand-activated transcription factor that mediates effects within the nucleus or cytoplasm to regulate genomic and non-genomic events. Localisation of the GR to a specific cellular compartment is therefore an important determinant of the cellular response to Gcs.Live cell imaging of GR trafficking using fluorophore-tagged GR shows drama...

The actions of glucocorticoids (Gc) are mediated by the glucocorticoid receptor (GR). Several isoforms of the GR exist. Whilst GR alpha is the most abundant isoform, constitutive alternative splicing at the exon 3/exon 4 boundary results in an additional arginine within the DNA binding domain to produce the gamma isoform. Although GR gamma comprises 4–8% of total GR transcripts and is highly conserved through mammalian evolution, its biological function remains unknown.</...

Glucocorticoids (Gcs) act via the intracellular glucocorticoid receptor (GR) to regulate cellular homeostasis. Previous studies have demonstrated altered Gc sensitivity during mitosis. This reduced sensitivity can be explained only in part through the selective export of GR in mitotic cell populations. In this study ligand-independent, cell cycle-dependent effects on GR have been explored.Mitotic cells show a marked increase in ligand-independent ser211 ...

Glucocorticoids (Gcs) act via the intracellular glucocorticoid receptor (GR) to regulate cellular homeostasis. GR is a ligand-activated transcription factor which mediates effects within the nucleus or cytoplasm to regulate genomic or non-genomic events. Localisation of the GR to a specific cellular compartment is therefore an important determinant of the cellular response to Gcs.Live cell imaging of GR trafficking in cells transfected with fluorophore-t...