Endocrine Abstracts

Background: While psychiatric disturbances are well-documented manifestations of hypothyroidism, initiation of levothyroxine (LT4) therapy can also present in a similar manner.Case: A 34-year-old Filipino with Hashimoto’s thyroiditis consulted for signs and symptoms of hypothyroidism. Thyroid function tests were severely deranged, and an electrocardiogram revealed high grade atrioventricular block. Twenty-four hours after a full replaceme...

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...

Introduction: To prevent neurological damage caused by congenital hyperinsulinism (CHI), hypoglycaemia must be avoided and treated promptly. Education of parents, carers and families of patients with CHI (PCFs) about the causes and consequences of CHI may help to reduce severity of hypoglycaemia due to earlier correction of blood glucose levels. We aimed to determine whether video animations could be used to improve understanding of CHI among PCFs, and the acceptability of thi...

Background: Pseudohypoparathyroidism type 1a (PHP1a) is a rare disorder caused by a maternally inherited mutation in the GNAS gene. PHP1a is usually diagnosed in childhood due to a distinctive phenotype that includes short stature, brachydactly, ectopic ossifications, and multi-hormone resistance. These features are associated with resistance to parathyroid hormone (PTH).Case: We report the case of a 3.4-year-old boy who presented with a general...

During early life, the majority of cardiomyocytes exit the cell cycle and undergo terminal differentiation, becoming binucleated. This establishes the number of cardiomyocytes for the remainder of the lifetime, with subsequent consequences for cardiac resilience in adulthood. Activation of the glucocorticoid receptor (GR) is important for heart maturation: fetal mice lacking GR in cardiomyocytes (SMGRKO) show structural and functional cardiac immaturity. Young adult male and f...

Background: Chronically elevated brain glucocorticoid (GC) levels impair cognition. In rodents, raised GC levels prior to lipopolyaccharide (LPS) administration potentiate neuroinflammation although GC suppresses neuroinflammation if administered after LPS. 11β-hydroxysteroid dehydrogenase-1 (11β-HSD1) activity can increase intracellular GC levels, including in the brain, without alteration in circulating levels. 11β-HSD1 deficiency/inhibition protects against a...

Bilateral inferior petrosal sinus sampling (BIPSS) is the gold standard investigation in Cushing’s disease for identifying the pituitary as the ACTH source. This technique aims to demonstrate a gradient of central:peripheral ACTH levels of >2:1 in such patients, or >3:1 after CRH stimulation. In patients without significant pituitary MRI abnormalities this facilitates neurosurgical exploration.The test is limited by difficulties in achieving...

Objective: X-linked adrenoleukodystrophy (X-ALD) is a rare, sometimes devastating disorder caused by-mainly inherited- mutations in the ABCD1 gene. Cerebral X-ALD can be prevented or modified if diagnosed presymptomatically. Mutation can lead to very long chain fatty acid (VLCFA) accumulation in adrenocortical cells, which can cause antibody negative primary Addison’s disease (ANPAD). There are recommendations that all males affected by ANPAD should have VLCFA analysis. W...

Iodine deficiency is the most common cause of preventable mental impairment worldwide. Recent evidence suggests the re-emergence of mild iodine deficiency in the UK. A recent multicentre survey in the UK reported that 68% of school girls were iodine deficient with the lowest levels seen in Northern Ireland (NI). Unlike many countries, the UK does not have a salt or food iodination program. World Health Organisation defines deficiency as follows: mild 50–99 μg/l; mode...

Adequate iodine intake during pregnancy is required for the production of thyroid hormones and brain development in the foetus. Recent evidence has suggested re-emergence of mild iodine deficiency in the UK but there are few studies that have specifically looked at iodine intake in pregnant women. Current World Health Organisation recommendation is for 250 mcg/day intake of iodine in pregnancy and the following are good sources of dietary iodine: 1 pint milk (~140–220 mcg...