Searchable abstracts of presentations at key conferences in endocrinology
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European Congress of Endocrinology 2022

Milan, Italy
21 May 2022 - 24 May 2022

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The 24th European Congress of Endocrinology (ECE) and the Italian Society of Endocrinology look forward to welcoming you to Milan. ECE 2022 returns for a four day, six parallel session festival of endocrine science. You can join us In person in Milan, Italy OR Live @Home online!

Rapid Communications

Rapid Communications 2: Adrenal and Cardiovascular Endocrinology 1

ea0081rc2.1 | Rapid Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES

Smith Chris , Read Jordan , Hall Charlotte , Maharaj Avinaash , Marroquin Ramirez Lucia , Qamar Younus , Hughes Claire , Clark Adrian , Prasad Rathi , Chan Li , Musa Salwa , Metherell Louise

Primary adrenal insufficiency in children can be due to mutations in >20 genes, most commonly CYP21A2, giving rise to 21-hydroxylase deficiency. Phenotypically these disorders overlap and present with conditions ranging from isolated (or familial) glucocorticoid deficiency (FGD) to syndromic disorders involving multiple tissues. Distinguishing between them can be problematic, especially where biochemical testing is not possible or not undertaken. Over the last 30 ...

ea0081rc2.2 | Rapid Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

FKBP5 methylation in adrenal insufficiency: looking at a new tool for assessing the quality of glucocorticoid replacement?

Chifu Irina , Carolin Scheuermann , Stephanie Burger-Stritt , Lippert Juliane , Herterich Sabine , Hahner Stefanie

Available glucocorticoid (GC) replacement regimens in adrenal insufficiency (AI) only roughly correspond to physiological steroid profiles. Control of substitution quality is therefore difficult but significant, as even mild chronic over- or under-replacement may be clinically relevant. FKBP5 regulates GC receptor sensitivity by reducing its affinity to cortisol when bound to the receptor complex. FKBP5 methylation has been inversely correlated with cortisol levels both in hea...

ea0081rc2.3 | Rapid Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

Diagnostic accuracy of basal cortisol level to predict secondary adrenal insufficiency in patients with pituitary disease

Mathieson Campbell , Ali Rashid Razan , Boot Christopher S , James Andy , Mamoojee Yaasir

Objective: The 250 µg short Synacthen stimulation test (SST) is the most commonly used dynamic assessment to diagnose adrenal insufficiency (AI). There are challenges to the use of the SST in routine clinical practice, including staff and resource limitation in the current COVID-19 pandemic and Synacthen cost. We aimed to investigate the value of basal cortisol level for predicting AI in our selected cohort of patients at risk of secondary adrenal insufficiency from pitui...

ea0081rc2.4 | Rapid Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

Diagnostic value of basal cortisol level to predict adrenal insufficiency in patients treated with glucocorticoids during COVID-19: a single centre observational cohort study

Jensterle Mojca , Rakusa Matej , Vidmar Gaj , Janez Andrej , Kocjan Tomaž

Objective: During the current pandemic of COVID-19, many therapeutic protocols adopted high dose systemic glucocorticoids (GC) for treatment of moderate to severe respiratory insufficiency. The suppression of the hypothalamic┬ľpituitary┬ľadrenal axis by synthetic GC, even after a short treatment period, cannot be reliably predicted due to pathophysiological changes in cortisol dynamics in critically ill, inter-individual pharmacokinetic differences, and sensitivity var...

ea0081rc2.5 | Rapid Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

Treatment of adrenal insufficiency in the netherlands from a patient perspective in the recent past. Lessions learned for europe

Franken Anton , van der Vlugt Roselinda , Beun Johan

In 2015 AdrenalNET organized a roundtable conference with patient representatives, prescribers and pharmaceutical industry. The cause of this meeting was complaints of patients about the problematic hydrocortisone market in the Netherlands, characterized by frequent availability issues (shortage ) of the hydrocortison tablets/capsules and frequent changes in manufacturers (compounding companies) leading to quality issues. All parties at the roundtable meeting agreed to join fo...

ea0081rc2.6 | Rapid Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

Modified release hydrocortisone capsules (MRHC, Efmody) improve control of congenital adrenal hyperplasia (CAH) on a lower glucocorticoid dose than standard treatment

Rees Aled , Merke Deborah P , Arlt Wiebke , Brac De La Periere Aude , Linden Hirschberg Angelica , Juul Anders , Mallappa Ashwini , Newell-Price John D. C. , Graham Perry Colin , Prete Alessandro , Reisch Nicole , Stikkelbroeck Monica , Touraine Philippe A , Coope Helen , Porter John , Ross Richard John M

Background: The therapeutic goal in CAH is androgen control on the lowest achievable glucocorticoid dose, preferably an adrenal replacement dose (15-25 mg hydrocortisone a day)1. However, the glucocorticoid dose required to control androgens frequently exceeds that required for adrenal replacement2. Modified-release hydrocortisone (MRHC) capsules, (Efmody, Diurnal Ltd, Cardiff, UK), replicate cortisol diurnal rhythm and improve CAH control compared to sta...

ea0081rc2.7 | Rapid Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

Improved biochemical control with modified-release hydrocortisone overturns the impaired fludrocortisone effect in salt-wasting CAH patients

Tschaidse Lea , Reisch Nicole , Arlt Wiebke , Brac De La Perriere Aude , Linden Hirschberg Angelica , Juul Anders , Mallappa Ashwini , Merke Deborah P , Newell-Price John DC , Perry Colin Graham , Prete Alessandro , Rees Aled , Stikkelbroeck Monica , Touraine Phillippe A , Coope Helen , Porter John , Ross Richard John M , Quinkler Marcus

Background: Patients with salt-wasting congenital adrenal hyperplasia (CAH) due to classic 21-hydroxylase deficiency require glucocorticoid (GC) and mineralocorticoid (MC) replacement therapy. Recently, it was shown that twice daily modified-release hydrocortisone hard capsules (MRHC, Efmody®, Diurnal Ltd) improved control of CAH with most patients showing good disease control versus standard GC therapy. However, no data has been reported on the renin-angiotens...

ea0081rc2.8 | Rapid Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

Fertility in congenital adrenal hyperplasia (CAH) patients on modified release hydrocortisone capsules (MRHC, Efmody)

Tschaidse Lea , Quinkler Marcus , Arlt Wiebke , Brac De La Perriere Aude , Linden Hirschberg Angelica , Juul Anders , Mallappa Ashwini , Merke Deborah P , Newell-Price John DC , Perry Colin Graham , Prete Alessandro , Rees Aled , Stikkelbroeck Monica , Touraine Philippe A , Coope Helen , Porter John , Ross Richard John M , Reisch Nicole

Background: Fertility in CAH women is impaired: 0.25 live births vs 1.8 in the UK population and 45% have irregular menses vs 13.6% in healthy women1. Male fertility is also impaired in CAH with oligospermia reported in 48%2. Treatment of infertility usually involves increasing the glucocorticoid dose to normalise adrenal androgens and progesterone to facilitate ovulation and implantation, respectively. Modified-release hydrocortisone (MRHC) capsules, (Ef...