Endocrine Abstracts

Introduction: We present a 5-year-old girl with thyroid hormone resistance, subsequently discovered to be heterozygous for TRβ mutation. This case highlights the necessity to investigate, in detail, all children with persistently high thyroxin with normal TSH levels in order to aid future management and the necessity to follow them up.Case report: SD was born at term by normal delivery weighing 3.34 kg (50th centile). She was referred at 6 months of...

Introduction: There is growing evidence that 11β-HSD1 expression/activity increases with age in key target tissues including adipose tissue, bone, and skin, implicating local amplification of glucocorticoids in the pathophysiology of related disease. We have previously shown that 11β-HSD1KO mice are protected from both the adverse metabolic effects of excess glucocorticoids and age-associated muscle weakness. We investigated changes in global activity and skeletal mu...

Melanocortin receptors (MCS, MC1–MC5) are GPCRs, activated with different affinities by the melanocortin peptides (α-, β-, γ-MSH and ACTH). They are widely distributed throughout the body displaying a multitude of actions however their role in reproductive physiology is unclear. Previously, we have shown a reduction of pituitary hormone content and abnormalities in testes morphology in male MC3 null mice. The aim ...

Introduction: Nrf2 (Nfe2l2) is a transcription factor that regulates a series of cytoprotective and antioxidant enzymes. Upon exposure to oxidative or electrophilic stress, Nrf2 enters the nucleus and induces its target genes expression. Follicular thyroid cells have physiologically high levels of reactive oxygen species as oxidation of iodine is essential for iodination of thyroglobulin and thyroid hormones synthesis. We have shown previously that Nrf2 pathway is active in th...

Introduction: Generously supported by IPSEN)-->Pituitary infarction is rare in the paediatric age. In adolescents and adults it is often secondary to haemorrhage into an underlying lesion such as pituitary adenoma or cyst. Lymphocytic hypophysitis is rare in children and usually peri-tumoral due to germinoma, craniopharyngioma or Rathke’s cyst and often associated with hypopituitarism and diabetes insipidus.<p class="abstext...

Glucocorticoids (GCs) are prescribed for their anti-inflammatory and immunosuppressive properties. However, they have significant side-effects including a decline in muscle mass and function which has similarities to age related sacropaenia. Within skeletal muscle 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) converts 11-dehydrocorticosterone (11DHC) to active corticosterone (CORT) amplifying local GC action. We hypothesise that 11β-HSD1 mediated intramyoce...

Whilst the majority of differentiated thyroid cancers (DTC) have oncogenic mutations, a significant minority may be driven by the overexpression of proto-oncogenes. PTTG and PBF are proto-oncogenes which are induced in DTC, elicit tumours in xenograft models and interact in vitro, where PBF shuttles PTTG into the nucleus. However, the relative contributions of each gene to DTC has not been delineated. Here, we constructed a bi-transgenic murine model over-expressing b...

Increased life expectancy in patients with CF has brought about novel challenges in their care. Osteoporosis in CF is associated with significant morbidity and is an exclusion criterion for lung transplantation. Recent evidence suggests an association between dysglycaemia and low bone mineral density (BMD). We aimed to determine predictors of bone loss in a cohort of CF patients attending a tertiary referral centre and, in particular, if dysglycaemia is linked with low BMD.</p...

Patients with primary hyperparathyroidism (PHP) should have assessment of urinary calcium excretion as part of routine work up. This helps in the differential diagnosis of PHP in that urine calcium is low in familial benign hypocalciuric hypercalcaemia. Possible measures of calcium excretion include 24 h urine collection, spot sample for urine for urine calcium concentration and calcium/creatinine ratio (UCa/creat), and fractional excretion of calcium (FrExCa=urine calcium&#21...

This group has previously audited the effect of a protocol for investigation of primary hyperparathyroidism (PHP); the protocol stating that only patients meeting criteria for parathyroidectomy should have parathyroid imaging carried out. This showed a reduction in the number of radiological investigations (USS, CT, MRI and sestamibi scans) done in patients with primary hyperparathyroidism following introduction of this protocol.The aim of this audit was...