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57th Annual ESPE

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

Free Communications

Adrenals & HPA Axis

hrp0089fc1.1 | Adrenals & HPA Axis | ESPE2018

A Novel Non-invasive Short Synacthen Test Validated in a Healthy Paediatric Population

Elder Charlotte , Vilela Ruben , Johnson Trevor , Kemp E Helen , Keevil Brian , Newell-Price John , Ross Richard , Wright Neil

Introduction: Worldwide the Short Synacthen Test (SST) is the most popular diagnostic investigation for adrenal insufficiency (AI) amongst both paediatric and adult endocrinologists. Cannulation and blood sampling are required making it invasive, time-consuming and resource-intensive. We have previously validated a reliably absorbed and well tolerated formulation of nasal synacthen (Nasacthin003) in healthy adult males, measuring the glucocorticoid response in salivary cortiso...

hrp0089fc1.2 | Adrenals & HPA Axis | ESPE2018

Long-term Effects of Prenatal Dexamethasone Treatment and Postnatal Glucocorticoid Treatment on Brain Structure in the Context of CAH

Westeinde Annelies van't , Karlsson Leif , Sandberg Malin , Nordenstrom Anna , Paddila Nelly , Lajic Svetlana

Objective: Congenital Adrenal Hyperplasia (CAH) requires life-long replacement of cortisol. Female fetuses with classical CAH are virilized, which can be prevented by prenatal dexamethasone (DEX) treatment from gestational week 7. However, 7 out of 8 fetuses are treated unnecessarily during fetal life and are thus exposed to high prenatal glucocorticoid (GC) levels. Both prenatal exposures to high GC levels, as well as long term postnatal GC-treatment in patients with CAH are ...

hrp0089fc1.3 | Adrenals & HPA Axis | ESPE2018

Targetting the Binding of ACTH to the Melanocortin Receptor by Structure Modeling and Design of Peptide antagonists to Block Excess Androgens in 21-hydroxylase Deficiency

Parween Shaheena , Fluck Christa E , Pandey Amit V

Background: The adrenocorticotropic hormone (ACTH) is a 39 amino acid polypeptide secreted by the anterior pituitary and regulates cortisol secretion from the adrenal cortex. Cortisol has negative feedback and regulates the synthesis and secretion of the ACTH. Excess ACTH is associated with a wide range of diseases including congenital adrenal hyperplasia (CAH). Classic CAH due to the 21-hydroxylase (CYP21A2) deficiency causes a reduction or loss of cortisol synthesis. Here th...

hrp0089fc1.4 | Adrenals & HPA Axis | ESPE2018

Whole Exome Sequencing in Patients with Primary Generalized Glucocorticoid Resistance Identifies a Novel TRIM28 Gene Mutation (p.R230X)

Sertedaki Amalia , Marinakis Nikos , Nicolaides Nicolas C. , Crousos George , Charmandari Evangelia

Introduction: Primary Generalized Glucocorticoid Resistance or Chrousos syndrome (CS) is a rare sporadic or familial disorder characterized by generalized, partial tissue insensitivity to glucocorticoids. Mutations of the NR3C1 gene, which encodes the human glucocorticoid receptor, have been identified in many but not all patients with CS.Objective: To identify novel genes related to CS in patients without NR3C1 gene mutations.<p cl...

hrp0089fc1.5 | Adrenals &amp; HPA Axis | ESPE2018

Untargeted Plasma Metabolomics in Subjects with Differences in Tissue Glucocorticoid Sensitivity Identifies a Novel metabolic Signature

Nicolaides Nicolas C. , Ioannidi Maria-Konstantina , Koniari Eleni , Sertedaki Amalia , Klapa Maria I. , Chrousos George P. , Charmandari Evangelia

Background: Tissue glucocorticoid sensitivity is characterized by a considerable variation in terms of therapeutic response and side effects to synthetic glucocorticoids. The multi-metabolite concentration profile measured by untargeted plasma metabolomics provides a comprehensive metabolic signature that might be used in clinical practice.Objective and Hypotheses: To investigate the usefulness of plasma metabolomics in identifying a metabolic signature ...

hrp0089fc1.6 | Adrenals &amp; HPA Axis | ESPE2018

A Novel Stem Cell Model for the Triple A Syndrome

Da Costa Alexandra Rodrigues , Qarin Shamma , Bradshaw Teisha Y. , Watson David , Prasad Rathi , Barnes Michael R. , Metherell Louise A. , Chapple J. Paul , Skarnes William C. , Storr Helen L.

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...