Endocrine Abstracts

The adrenocorticotrophin hormone (ACTH) receptor, also known as the melanocortin-2-receptor (MC2R), is a key mediator of cortisol synthesis in the adrenal gland. Over 40 loss-of-function MC2R mutations have been described to give rise to familial glucocorticoid deficiency type-1 (FGD1). In contrast, to date only one naturally occurring gain-of-function mutation, F278C, has been identified in a patient with ACTH-independent Cushing’s syndrome. Previous work has demonstrate...

Introduction: We present a case of primary aldosteronism (PA) with adrenal mass, where lateralization of aldosterone production by adrenal-vein sampling (AVS) was discordant with cross-sectional imaging. We highlight an approach to investigation of PA using functional nuclear imaging, and show that subclinical cortisol excess may impact the reliability of AVS.Case: 70 year old female with 2.6 cm left-sided adrenal mass, ...

Introduction: Heterozygous inactivating mutations in the maternal allele of the GNAS gene typically result in pseudohypoparathyroidism (PHP). GNAS variants were recently described in 1% of patients, not known to have PHP, in the UK Genetics of Obesity cohort, resulting in reduced MC4R signalling and variable effects on PTH-R and GHRH-R signalling.Methods: NGS (Cambridge Obesity Gene Panel) and in vitro functiona...

Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency with retention of normal mineralocorticoid production. FGD causing mutations in the MC2R accessory protein, MRAP, often occur at the canonical donor splice-site of intron 3, presumed to result in skipping of the first coding exon with unknown consequences at the protein level. DNA from three patients (0 - 6 months) with high ACTH and/or low cortisol levels underwent whole e...

Case history: We present a 76-year-old woman with cyclical ACTH-dependent Cushing’s syndrome since 2002. She has two-yearly relapses with proximal myopathy, candidiasis, facial swelling and hypokalaemia that have been biochemically confirmed with Overnight and Low Dose Dexamethasone Suppression tests. Although her initial cycles were brief and uncomplicated, her most recent episodes led to prolonged hospital admissions. During her last admission, she became septic complic...

Background: Maternal severe iodine deficiency has been associated with pregnancy and neonatal loss but the impact of mild-moderate iodine deficiency on pregnancy is not well-documented. Mild-moderate iodine deficiency during pregnancy is common even in iodine replete countries. In the UK women of reproductive age have been found to be mildly-to-moderately iodine deficient. UI/C is an optimal indicator for iodine status in pregnancy.Aims: We...

Background: Maternal severe iodine deficiency has been associated with pregnancy and neonatal loss but the impact of mild-moderate iodine deficiency on pregnancy is not well-documented. Mild-moderate iodine deficiency during pregnancy is common even in iodine replete countries. In the UK women of reproductive age have been found to be mildly-to-moderately iodine deficient. UI/C is an optimal indicator for iodine status in pregnancy.Aims: We...

Background: Down Syndrome (DS) is the commonest form of chromosomal trisomy. Genetic factors in DS may increase the risk for diabetes. Obesity and type 2 diabetes mellitus (T2DM) rates have increased in the general populationbut it is not known whether this similarly affected people with DS.Objective: To determine whether DS is associated with increased incidence of diabetes and the relationship with obesity across the lifespan compared to controls.<...

Background and aims: Thyroid peroxidase antibody (TPOAb) positivity is prevalent in women of reproductive age and pre-disposes to thyroid dysfunction, namely hypothyroidism, which has adverse effects on pregnancy. The aim of this study was to report the rate of development of abnormal thyroid function among initially euthyroid TPOAb positive women recruited into TABLET trial. To also identify factors associated with the development of hypothyroidism and to compare outcomes bet...

Introduction: Noise in the operating room is an ongoing problem and impacts the outcome of surgery. Noise as stressor can produce a startle reaction and activate fight or flight response of the autonomic and endocrine system. The psychobiology of the stress as assessed by salivary cortisol level is a sensitive measure of allostatic load. In this study, we correlated salivary cortisol levels of the surgical team with noise measurement and also whether the noise in OR subjective...