Endocrine Abstracts

Hashimoto’s encephalopathy (HE) is a very rare neuropsychiatric condition associated with autoimmune thyroid disorders which shows a remarkable response to steroid therapy and hence is also called steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT). We report a case of 44 year old lady presenting twice with psycho-affective symptoms but not receiving the diagnosis on first presentation. She initially presented with 3 wee...

Background: Constitutional delay of growth and puberty (CDGP) is the commonest cause of delayed puberty in boys and differentiation of CDGP from other causes of delayed puberty can sometimes be challenging. We report a boy with delayed puberty due to a pituitary adenoma.Case: A 15-year-old boy was referred for endocrinology consultation with concerns regarding short stature and delayed puberty. There was no history or laboratory evidence suggestive of ch...

Background: Structured education should be appropriate to the learning styles of participants. Health professionals and experts in education worked together to develop KICk-OFF for 11–16 year olds and similar experience has now been used in the development of Junior KICk-OFF for Key Stage (KS) 1 (4–7 years) and KS2 (7–11 years).Method: The KICk-OFF team developed the curricula with input from teachers and an academic educationalist. Sectio...

Introduction: We do not fully understand why some hypothyroid patients complain of persistent symptoms despite normalisation of TSH with levothyroxine therapy. Recent evidence in adults suggests that polymorphism in deiodinase2 enzyme could lead to lower level of T3 in some tissues and persistence of symptoms. A combination therapy with T3/T4 may improve symptoms especially psychological well-being, mood and memory in such patients. Combination...

: The orally administered targeted therapies, Sunitinib and Everolimus lengthen progression free survival in pancreatic neuroendocrine tumours (pNETs). Choice of therapy has traditionally been on avoidance of deterioration in established co-morbidities. Sunitinib has been recognised to induce hypocalcaemia and the subsequent need for calcium supplementation has been reported. However, little has been documented about the utility and therapeutic significance of this effect....

Background: The overnight dexamethasone (DEX) suppression test is useful for the investigation of hypercortisolism, however several factors may influence its performance. Intestinal uptake of DEX, inactivation by conversion by CYP3A4 in the liver and renal clearance can all affect test variability. It is also known that several drugs can either reduce or accelerate CYP3A4 activity, thereby affecting blood DEX concentrations. Interpretation of the test would be greatly enhanced...

Introduction: Cushing’s disease is a devastating condition associated with a fivefold excess mortality. It is usually due to a small (few mm) benign corticotroph tumour in the pituitary expressing excess pro-opiomelanocortin (POMC), the peptide product of which, ACTH, drives excess secretion of cortisol from the adrenal. There is a clear clinical need for better treatment options.Background: We have designed, optimized and validated unique siRNAs to...

Background: Germline mutations in SDHB, SDHC, and SDHD cause hereditary phaeochromocytoma and paraganglioma (PGL) syndromes. The genotype-phenotype correlation of these mutations and relationship to penetrance is poor. Our objective was to assess characteristics of patients with SDH mutations seen in our dedicated multidisciplinary clinic.Methods: A retrospective observational study of patients attending from May 2005 to May 2010, approved as an institut...

A 61-year-old was diagnosed with CLL in 1986 but received no active treatment until 2006, when the WCC became elevated and bone marrow biopsy showed a dense B cell infiltrate. Despite initial treatment with chemotherapy there was disease progression, hence started on Alemtuzumab (Campath) on 24/5/2010. This was stopped on 18/6/2010 because of recurrent neutropenic sepsis. He was readmitted on 18/7/2010 because of left eye cellulitis and hyponatremic with serum sodium of 122 mm...

Introduction: Long-term repression of the HPA axis is a major side effect of chronic glucocorticoid administration, even after attempted withdrawal of therapy, and complicates management in patients. We have previously shown that the effect of chronic glucocorticoid treatment in vitro is in part mediated by inhibition of expression the POMC transcription factors Neuro D1 and Tpit, and that this is sustained on treatment withdrawal. We have now furth...