Searchable abstracts of presentations at key conferences in endocrinology

ea0059p003 | Adrenal and steroids | SFEBES2018

Mass spectrometry-based assessment of childhood androgen excess in 487 consecutive patients

Mannion Pascoe , Elhassan Yasir , Smith Karen , Webster Rachel , Saraff Vrinda , Barrett Timothy , Shaw Nick , Krone Nils , Dias Renuka , Kershaw Melanie , Kirk Jeremy , Hogler Wolfgang , Krone Ruth , O'Reilly Michael , Arlt Wiebke , Idkowiak Jan

Background: Androgen excess in childhood is a common clinical presentation with potentially serious underlying pathology.Objectives and Design: We have examined the diagnostic utility of simultaneous measurement of serum dehydroepiandrosterone sulfate (DHEAS), androstenedione (A4), and testosterone (T) to delineate the biochemical signatures of conditions underlying paediatric hyperandrogenism in a large tertiary care referral centre (2013–2017). Se...

ea0038oc1.6 | Early Career Oral Communications | SFEBES2015

Urine steroid metabolomics as a diagnostic tool in primary aldosteronism

Lang Katharina , Beuschlein Felix , Biehl Michael , Dietz Anna , Riester Anna , Hughes Beverly A , O'Neil Donna M , Hahner Stefanie , Quinkler Marcus , Lenders Jacques W , Shackleton Cedric H L , Reincke Martin , Arlt Wiebke

Introduction: The regular diagnostic workup for primary aldosteronism (PA) can be very demanding and involves multiple invasive as well as time and cost intensive diagnostic tests. Here we have explored the value of urinary steroid metabolome analysis in the diagnosis and differential diagnosis of PA. Previously, urinary 3α,5β-tetrahydroaldosterone (THAldo) has been suggested as a reliable screening test for PA and serum 18-oxocortisol and 18-hydroxycortisol have bee...

ea0038oc3.4 | Steroids and adrenal | SFEBES2015

Urine steroid metabolomics as a novel diagnostic tool for early detection of recurrence in adrenocortical carcinoma

Chortis Vasileios , Bancos Irina , Lang Katharina , Hughes Beverly , O'Neil Donna , Taylor Angela , Fassnacht Martin , Bertherat Jerome , Beuschlein Felix , Quinkler Marcus , Vassiliadi Dimitra , Dennedy M Conall , Mannelli Massimo , Biehl Michael , Arlt Wiebke

Introduction: Adrenocortical carcinoma (ACC) is an aggressive malignancy with a high rate of recurrence. Regular post-operative follow-up imaging is necessary, but associated with high radiation exposure and frequent diagnostic ambiguity. Urine steroid metabolomics has recently been introduced as a novel diagnostic tool for the detection of adrenocortical malignancy in patients with adrenal incidentalomas. Here we present the first clinical study assessing the performance of t...

ea0035s14.1 | Clinical outcome of medical intervention in Disorder of Sex Development (DSD) | ECE2014

dsd-LIFE: clinical European outcome study of disorders of sex development

Kohler Birgit , Arlt Wiebke , Bouvattier Claire , Chatelain Pierre , Grinten Hedi Claahsen van der , Cohen-Kettenis Peggy , Nordenstrom Anna , Pienkowski Catherine , Richter-Unruh Annette , Slowikowska-Hilczer Jolanta , Szarras-Capnik Maria , Reisch Nicole , Sultan Charles , Thyen Ute , Wiesemann Claudia

Disorders of sex development (DSD) include a conglomerate of rare conditions with discrepancy of the chromosomal, gonadal or phenotypic sex. Since the last 2 decades the genetic causes and the pathogenesis have been identified in many patients with DSD. Multidisciplinary clinical care as decision on the sex of rearing, genital surgery, hormone therapies and psychological support has a life-long impact on the affected persons. However, previous clinical outcome studies of DSD w...

ea0034p232 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2014

High incidence of cardiac involvement in patients diagnosed with phaeochromocytoma: a clinical study using cardiovascular magnetic resonance imaging

Ferreira Vanessa , Rodrigues Mafalda , Piechnik Stefan , Marini Claudia , Karamitsos Theodoros , Francis Jane , Arnold Ranjit , Mihai Radu , Thomas Julia , Herincs Maria , Korbonits Marta , Hassan-Smith Zaki , Arlt Wiebke , Karavitaki Niki , Grossman Ashley , Neubauer Stefan , Wass John

Background: In patients with phaeochromocytoma, sudden and/or chronic exposure to catecholamines may predispose to cardiac pathology, including left ventricular (LV) hypertrophy, myocardial infarction, stress-induced cardiomyopathy and heart failure. We conducted the first prospective, multicentre study using cardiovascular magnetic resonance (CMR) imaging to describe the variety and incidence of cardiac abnormalities in phaeochromocytoma.Methods: Fifty ...

ea0034p357 | Steroids | SFEBES2014

Steroid sulfatase contributes to systemic androgen activation in pre-pubertal boys: lessons from steroid sulfatase deficiency

Idkowiak Jan , Taylor Angela E , O'Neil Donna M , Subtil Sandra , Vijzelaar Raymon , Dias Renuka P , Amin Rakesh , Barrett Timothy G , Kirk Jeremy W , Shackleton Cedric H L , Moss Celia , Arlt Wiebke

Steroid sulfatase (STS) cleaves the sulfate moiety off steroid sulfates, including DHEAS, the inactive sulfate ester of the adrenal androgen precursor DHEA. Deficient DHEA sulfation, the opposite enzymatic reaction to that catalysed by STS, results in androgen excess by increased conversion of DHEA to active androgens. STS deficiency (STSD) due to deletions or inactivating mutations in the X-linked STS gene manifests with ichthyosis, but androgen homeostasis in STSD h...

ea0070oc1.2 | Adrenal and Cardiovascular Endocrinology | ECE2020

A Phase III randomized, controlled trial of a modified-release hydrocortisone formulation in the treatment of classic congenital adrenal hyperplasia

Merke Deborah , Mallappa Ashwini , Arlt Wiebke , de la Perriere Aude Brac , Hirschberg Linden Angelica , Juul Anders , Newell-Price John , Perry Colin , Prete Alessandro , Rees Aled , Reisch Nicole , Stikkelbroeck Nike , Touraine Phillippe , Matlby Kerry , Treasure Peter , Porter John , Ross Richard

Background: Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD-CAH) have poor health outcomes due to failure of currently available glucocorticoid preparations to control adrenocorticotropic hormone-driven androgen excess. We investigated whether modified-release hydrocortisone (MR-HC), which mimics the physiological circadian cortisol rhythm, could improve androgen control.Methods: 122 patients with 21-OHD-CAH ...

ea0070aep544 | General Endocrinology | ECE2020

Expanding the clinical and genetic spectrum of 17α-Hydroxylase/17,20-Lyase deficiency: 7 cases and 5 novel mutations in the CYP17A1 gene

Sun Min , Müller Jonathan , Gilligan Lorna , Taylor Angela , Shaheen Fozia , Cheetham Tim , Denvir Louise , Gleeson Helena , Shenoy Savitha , Szarras-Czapnik Maria , Rahman Mushtaqur , Taylor Norman , T’sjoen Guy , Shackleton Cedric , Arlt Wiebke , Idkowiak Jan

Context: Cytochrome P450 (CYP) 17A1 is located at major branch points of steroidogenesis exerting two distinct catalytic activities: 17α-hydroxylase generates glucocorticoid precursors and 17,20-lyase generates the principal sex steroid precursor dehydroepiandrosterone (DHEA). CYP17A1 deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. In severe 17OHD, affected individuals typically present with both glucocorticoid and sex steroid deficiency and mineraloc...

ea0028oc4.4 | Steroid | SFEBES2012

Broad phenotypic spectrum of 17α-hydroxylase deficiency: Functional characterisation of 4 novel mutations in the CYP17A1 gene

Idkowiak Jan , Parajes Castro Silvia , Shenoy Savitha , Dhir Vivek , Taylor Angela , Patel Pushpa , Arun Chankramath , Arlt Felix , Malunowicz Ewa , Taylor Norman , Shackleton Cedric , T'sjoen Guy , Cheetham Tim , Arlt Wiebke , Krone Nils

Steroid 17α-hydroxylase (CYP17A1) exerts two distinct activities that catalyze conversion reactions at key branch points in steroidogenesis. CYP17A1 17α-hydroxylase activity is the key step in cortisol synthesis whereas CYP17A1 17,20 lyase activity generates sex steroid precursors. Inactivating CYP17A1 mutations result in CYP17A1 deficiency (17OHD), a rare form of congenital adrenal hyperplasia that classically presents with combined glucocorticoid and sex steroid de...

ea0028p306 | Steroids | SFEBES2012

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency - analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort

Krone Nils , Rose Ian , Willis Debbie , Wild Sarah , Hodson James , Doherty Emma , Hahner Stefanie , Parajes Silvia , Stimson Roland , Han Thang , Carroll Paul , Conway Gerard , Walker Brian , Macdonald Fiona , Ross Richard , Arlt Wiebke , CaHASE The UK CAH Adult Study Executive

In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency a genotype-phenotype correlation exists for paediatric cohorts, helping to predict the severity of disease expression. Data on the correlation in adults is lacking. Here we report the genetic analysis of the UK CaHASE cohort, comprising CAH adults seen at 17 endocrine tertiary care centres. CYP21A2 mutation analysis was performed in 153 patients (median age 35 (range 18–69) yrs; 103 f, 50 m) by multi...