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57th Annual ESPE (ESPE 2018)

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Rapid Free Communications

Adrenals & HPA Axis

hrp0089rfc1.1 | Adrenals & HPA Axis | ESPE2018

The Relative Contributions of Genetic and Environmental Factors on Cortisol Metabolism at Pre-, Mid- and Post-Pubertal Ages

van Keulen Britt , Dolan Conor , Andrew Ruth , Walker Brian , Boomsma Dorret , Rotteveel Joost , Finken Martijn

Background: Inter-individual differences in the metabolism of cortisol have been postulated to emerge during puberty, and might be explained by a complex interplay of genetic and environmental factors. The aim of the current study was to estimate the relative contributions of genetic, shared environmental, and unshared environmental factors on cortisol metabolism in a longitudinal twin cohort assessed at pre-pubertal, mid-pubertal and post-pubertal ages....

hrp0089rfc1.2 | Adrenals & HPA Axis | ESPE2018

Changes in CYP19A1 and CYP3A4 Activities due to Population Genetic Variations in Human P450 Oxidoreductase

Parween Shaheena , Udhane Sameer S , Kagawa Norio , Pandey Amit V

Background: Cytochromes P450 proteins metabolize several steroid hormones, drugs and xenobiotics. All cytochromes P450s in the endoplasmic reticulum require P450 oxidoreductase (POR) for their catalytic activities. Earlier it has been shown that mutations in POR cause metabolic disorders of steroid hormone biosynthesis and also affect some drug metabolizing P450 activities. We aimed to characterize the mutations identified in nonclinical samples to access their effects on ster...

hrp0089rfc1.3 | Adrenals & HPA Axis | ESPE2018

Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency is Associated with Mitochondrial Dysfunction

Maharaj Avinaash , Bradshaw Teisha , Williams Jack , Guran Tulay , Braslavsky Debora , Brugger Britta , Metherell Lou , Prasad Rathi

Background: Loss of function mutations in SGPL1, a key component of sphingolipid metabolism, are associated with accumulation of sphingolipid intermediates giving rise to a multisystemic disease incorporating primary adrenal insufficiency (PAI) and progressive renal and neurological disease. Sphingolipids are implicated in mitochondrial apoptosis via induction of mitochondrial outer membrane permeabilization, cytosolic release of inter-membranal cytochrome c and activ...

hrp0089rfc1.4 | Adrenals & HPA Axis | ESPE2018

Mass Spectrometry-Based Assessment of Childhood Androgen Excess in 487 Consecutive Patients Over 5 Years

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

Background: Androgen excess in childhood is a common clinical presentation and might signify serious pathology. We have recently explored patterns and severity of androgen excess in a large female adult cohort to differentiate common polycystic ovarian syndrome (PCOS) from non-PCOS pathology, including congenital adrenal hyperplasia (CAH), ovarian hyperthecosis and adrenal and ovarian tumours (Elhassan et al., JCE&M 2018). Herein, we undertake a similar approach f...

hrp0089rfc1.5 | Adrenals & HPA Axis | ESPE2018

Quantitative Urinary GC–MS Based Steroid Analysis for Treatment Monitoring of Adolescents and Young Adults with Autoimmune Primary Adrenal Insufficiency

Kamrath Clemens , Hartmann Michaela F , Wudy Stefan A

Background: Autoimmune primary adrenal insufficiency (PAI) is a rare and life-threatening disease. Standard replacement therapy consists of multiple daily doses of hydrocortisone combined with fludrocortisone. A recent Endocrine Society guideline argued against hormonal monitoring of glucocorticoid replacement. However, about 50% of adolescents and young adults (AYAs) with chronic diseases are non-adherent to their prescribed treatment regimens. Pervasive nonadherence places p...

hrp0089rfc1.6 | Adrenals & HPA Axis | ESPE2018

A Laboratory Harmonization Strategy for Steroid Hormone Profiling by MoM-Transformed, Normalized Reference Ranges Independent of Age, Sex and Units

Kulle Alexandra E , Zalas Dominika , Reinehr Thomas , Niedziela Marek , Borzikowsky Christoph , Pinto Francisca , Baumann Juliane , Flader Maciej , Simic-Schleicher Gunter , Akkurt Halit Ilker , Heger Sabine , Hornig Nadine , Holterhus Paul-Martin

Background/aims: The high complexity of Pediatric reference ranges across age, sex and units impairs clinical application and comparability of steroid hormone data, e.g., in CAHs. We developed a Multiples-of-Median (MoM) normalization tool to overcome this major drawback in Pediatric Endocrinology.Methods: LC–MS/MS data comprising 10 steroid hormones representing 905 controls (555 males, 350 females, 0 to >16 years) from two previous datasets we...