Searchable abstracts of presentations at key conferences in endocrinology

ea0044p40 | Adrenal and Steroids | SFEBES2016

Steroid metabolomics for diagnosis of inborn steroidogenic disorders – bridging the gap between clinician and scientist through computational approaches

Baranowski Elizabeth , Bunte Kerstin , Shackleton Cedric , Taylor Angela , Hughes Beverley , Biehl Michael , Tino Peter , Guran Tulay , Arlt Wiebke

Background: The urinary steroid metabolome is considered the fingerprint of adrenal gland function. Novel methods using mass spectrometry profiling have seen the advent of a new era for metabolomics with powerful implications for both diagnostics and discovery. Its interpretation is difficult and performed by few specialists with the expertise to do so. This makes it a relatively inaccessible tool for the majority of Clinical Endocrinologists.Objective: ...

ea0078p36 | Gonadal, DSD and Reproduction | BSPED2021

Neuroblastoma with concurrent X chromosome monosomy, a coincidence or an association?

S. Baranowski Elizabeth , Harding Eleanor , Gatz Susanne A. , McCarthy Liam , Chandran Harish , Godber Caroline , Denvir Louise , Turnbull Jenny , Idkowiak Jan , Randell Tabitha , Mohamed Zainaba

Background: Turner’s syndrome (TS) affects 25-50 per 100,000 females. Germinal cell tumour risk is described for TS with Y-chromosome presence (12%) and gonadal dysgenesis (15-35%) but other cancer risk is less well described. Neuroblastoma accounts for 6% of UK childhood cancer registrations, is the commonest cancer diagnosed in the first year of life and the most common extra-cranial solid tumour in childhood. It carries a UK incidence of 10.9 cases/million children. Pr...

ea0049oc1.3 | Adrenal-Basic & Clinical | ECE2017

Steroid metabolomics for accurate and rapid diagnosis of inborn steroidogenic disorders

Baranowski Elizabeth , Bunte Kerstin , Shackleton Cedric H L , Taylor Angela E , Hughes Beverley A , Biehl Michael , Tino Peter , Guran Tulay , Arlt Wiebke

Background: Urinary steroid metabolite profiling is an accurate reflection of adrenal and gonadal steroid output and metabolism in peripheral target cells of steroid action. Measurement of steroid metabolite excretion by gas chromatography-–mass spectrometry (GC–MS) is considered reference standard for biochemical diagnosis of steroidogenic disorders. However, performance of GC–MS analysis and interpretation of the resulting data requires significant expertise a...

ea0073pep1.5 | Presented ePosters 1: Adrenal and Cardiovascular Endocrinology | ECE2021

Modified-release hydrocortisone improves androgen excess and facilitates glucocorticoid dose reduction in patients with classic congenital adrenal hyperplasia: non-invasive monitoring in saliva and urine

Prete Alessandro , Baranowski Elizabeth S. , Lina Schiffer , Adaway Joanne E. , Hawley James M. , Keevil Brian G. , Porter John , Ross Richard J. , Arlt Wiebke

BackgroundStandard glucocorticoid (GC) therapy in classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD-CAH) is often inadequate in controlling adrenal androgen excess, leading to GC over-exposure and poor health outcomes. A novel modified-release formulation of hydrocortisone (MR-HC, Chronocort® Diurnal Ltd. UK) has been shown to improve circulating adrenal androgen excess in 21-OHD-CAH. We investigated whether saliva and ...

ea0063oc10.1 | Adrenal 2 | ECE2019

Steroid metabolomics: a rapid computational approach for accurate differentiation of inborn disorders of steroidogenesis

Baranowski Elizabeth S , Ghosh Sreejita , Shackleton Cedric HL , Taylor Angela E , Hughes Beverly A , Gilligan Lorna C , Utari Agustini , Faradz Sultana MH , van Herwaarden Antonius E , Claahsen-van der Grinten Hedi L , Biehl Michael , Guran Tulay , Bunte Kerstin , Tino Peter , Arlt Wiebke

Background: Measurement of steroid metabolite excretion in urine by gas chromatography-mass spectrometry (GC-MS) provides a comprehensive profile of an individual’s adrenal and gonadal steroid production. It has long been acknowledged as a useful tool for diagnosis of inborn disorders of steroidogenesis leading to congenital adrenal hyperplasia and disorders of sex development. Ratios of steroid metabolites can be employed as surrogates for enzymatic activities of distinc...