Searchable abstracts of presentations at key conferences in endocrinology

ea0044oc4.4 | Adrenal and Steroids | SFEBES2016

A Single Nucleotide Polymorphism in the BACH2 Gene Contributes to Susceptibility to Autoimmune Addison’s Disease in UK and Norwegian cohorts

Pazderska Agnieszka , Oftedal Bergithe , Napier Catherine , Ainsworth Holly , Husebye Eystein , Cordell Heather , Pearce Simon , Mitchell Anna

Background: Autoimmune Addison disease (AAD) is a rare but highly heritable endocrinopathy. The BACH2 protein plays a crucial role in T lymphocyte maturation, and in particular in regulatory T cell formation, and allelic variation in its gene has been associated with autoimmune conditions such as type 1 diabetes, autoimmune thyroid disease and vitiligo. Its role in susceptibility to autoimmune Addison’s disease (AAD) has not been investigated.Aim: T...

ea0044p159 | Neuroendocrinology and pituitary | SFEBES2016

Dynamic hormonal diagnostics of acromegaly and Cushing’s disease

Simunkova Katerina , Russel Georgina , Upton Thomas , Husebye Eystein , Methlie Paal , Lovas Kristian , Lightman Stafford

Pituitary and adrenal gland assessment, is one of the most important aspects of the management of a pituitary and adrenal adenoma.Clinical practice varies widely with regard to assessment of pituitary and adrenal status pre- and post-operative. Pre-operative testing includes dynamic testing to assess function which is not practical in the immediate post-operative period. Instead a single morning serum total hormones are measured while a more definitive a...

ea0041gp24 | Adrenal (2) | ECE2016

Does measurement of serum dexamethasone increase diagnostic accuracy of the overnight dexamethasone-suppression test?

Ueland Grethe AEstrom , Methlie Paal , Thordasron Hrafnkell Baldur , Lovas Kristian , Kelp Oskar , Mellgren Gunnar , Husebye Eystein

Background: 1-mg overnight dexamethasone-suppression test (DST) is commonly used to screen for hypercortisolism. Sensitivity is high (95%), but specificity is low (80%), leading to false positive results. Identifying individuals with abnormal dexamethasone absorption or metabolism could enhance diagnostic accuracy.Aim: Use serum dexamethasone (s-DXT) to increase diagnostic accuracy of DST.Methods: Prospective study of DST for clini...

ea0059oc2.1 | The best of the best | SFEBES2018

24-hour adrenal steroid rhythms are readily detected by ULTRADIAN automated ambulatory microdialysis in man

Upton Thomas , Methlie Paal , Russell Georgina , Tsagarakis Stelios , Kampe Olle , Lightman Stafford , Husebye Eystein

Background: Hormones oscillate in circadian and ultradian rhythms. Single time point samples are difficult to interpret and high frequency measurements are time consuming, expensive and invasive. We developed a minimally invasive technique of ambulatory, automated microdialysis. This allows frequent 24-hour sampling of interstitial fluid while participants continue normal daily activities.Methods: Healthy volunteers (age 18–68, no regular medication...

ea0037ep41 | Adrenal cortex | ECE2015

Effect of stress-dosed hydrocortisone on physical capacity in patients with Addison's disease

Simunkova Katerina , Jovanovic Nevena , Oksnes Marianne , Lovas Kristian , Husebye Eystein Sverre

The current conventional glucocorticoid (GC) replacement therapy in primary adrenal insufficiency (Addison’s disease) and congenital adrenal hyperplasia (CAH) renders the cortisol levels unphysiological, resulting in very high levels alternating with almost undetectable levels of cortisol over the day. This reduces not merely the patient’s quality of life but increases the patient’s morbidity and mortality. The HPA axis is characterised by a dynamic circadian va...

ea0032p22 | Adrenal cortex | ECE2013

21-hydroxylase and interferon omega autoantibodies in Turner syndrome

Cleemann Line , Oftedal Bergithe , Trolle Christian , Holm Kirsten , Husebye Eystein , Gravholt Claus

Introduction: An increased frequency of autoimmune diseases and an elevated incidence of autoantibodies have been observed in Turner syndrome (TS), but indirect immunofluorescence (IIF) has not been able to demonstrate autoantibodies against the adrenal cortex. We asked if the more sensitive radioimmunosorbant assay employing recombinant human 21-hydroxylase was able to identify autoantibodies against 21-hydroxylase, (21OH-Ab) in TS patients; 21-hydroxylase is the major adrena...

ea0073aep26 | Adrenal and Cardiovascular Endocrinology | ECE2021

Adrenal steroid profiling in the diagnostics of partial enzyme defects in the adrenals. Establishment of normal cut-off levels using LC-MS/MS

Grethe Åstrøm Ueland , Dahl Sandra R. , Methlie Paal , Husebye Eystein , Thorsby Per Medboe

BackgroundNon-classical congenial adrenal hyperplasia (NCCAH) is an important differential diagnosis in women with acne, hirsutism, menstrual abnormalities and infertility. To diagnose NCCAH can be challenging, and currently used cutoff levels are based on unstandardized immunological assays, no longer in use.ObjectiveDefine LC-MS/MS based cut-off levels for steroid hormones, to improve diagnosis of NCCAH and...

ea0099p22 | Adrenal and Cardiovascular Endocrinology | ECE2024

Update on autoimmune polyendocrine syndrome type-1 in Norway: Using longitudinal immune cell composition incorporated with clinical features

Kucuka Isil , Iraji Dorsa , Breivik Lars , Husebye Eystein Sverre , Wolff Anette Boe , Oftedal Bergithe

Autoimmune Polyendocrine Syndrome type-1 (APS-1) is a rare monogenic disease (1:100 000 frequency), caused by mutations in the autoimmune regulator (AIRE) gene, which plays a crucial role in the thymus for negative selection of self-reacting T cells. With tissue damage caused by self-reactive immune cells from early stages of life and gradually presenting with symptoms in following years, APS-1 is clinically diagnosed by presence of minimum two components of the classical tria...

ea0065p7 | Adrenal and Cardiovascular | SFEBES2019

ULTRADIAN adrenal steroid metabolodynamics successfully discriminates pituitary Cushing’s disease from healthy normal variation

Upton Thomas , Zavala Eder , Fraser Diane , Methlie Paal , Russell Georgina , Tsagarakis Stelios , Kampe Olle , Lightman Stafford , Husebye Eystein

Background: Establishing endocrine diagnoses including pituitary Cushing’s remains challenging with delayed or misdiagnosis being very costly for both patient and the health care system. A key issue is that standard diagnostic tests are typically single time point, single analyte samples, which do not consider dynamic variation intrinsic to endocrine systems. Having previously demonstrated that free tissue hormones correlate strongly with plasma concentrations, we present...

ea0034oc3.3 | Steroids | SFEBES2014

The 21-hydroxylase pseudogene may have a role in induction of tolerance to steroidogenic machinery

Mitchell Anna Louise , Bronstad Ingeborg , Wolff Anette Boe , Narravula Alekhya , Skinningsrud Beate , Husebye Eystein S , Pearce Simon H S

The 21-hydroxylase (21OH) gene, CYP21A2, encodes the 21OH steroidogenic enzyme which is the primary autoantigen in autoimmune Addison’s disease (AAD). It is located on chromosome 6p21, in a copy number repeat termed RCCX, adjacent to the 21OH pseudogene (CYP21A1P). CYP21A1P is highly homologous to CYP21A2 but contains an 8 bp deletion in exon 3 (707-714delGAGACTAC) which results in a frameshift. The predicted protein product is...