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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

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Adrenals and HP Axis

hrp0092rfc13.1 | Adrenals and HP Axis | ESPE2019

Children and Adolescents in the United States with Congenital Adrenal Hyperplasia are not at Increased Risk for Attention-Deficit/Hyperactivity Disorder

Harasymiw Lauren , Grosse Scott , Sarafoglou Kyriakie

Background: Congenital adrenal hyperplasia (CAH) is a rare form of adrenal insufficiency characterized by impaired cortisol synthesis leading to excessive adrenal androgen production. Little is known regarding the effects of early and chronic androgen exposure in children with CAH, and whether this exposure may increase the risk of developing attention-deficit/hyperactivity disorder (ADHD) during childhood. The only study on the subject, based on a small sampl...

hrp0092rfc13.2 | Adrenals and HP Axis | ESPE2019

Development of Novel Non-Invasive Strategies for Monitoring of Treatment Control in Patients with Congenital Adrenal Hyperplasia

Bacila Irina-Alexandra , Adaway Jo , Hawley James , Mahdi Sundus , Acerini Carlo L , Krone Ruth , Patel Leena , Alvi Sabah , Randell Tabitha , Gevers Evelien , Dattani Mehul , Cheetham Timothy , Kyriakou Andreas , Schiffer Lina , Ryan Fiona , Crowne Elizabeth , Davies Justin H , Ahmed S Faisal , Keevil Brian , Krone Nils P

Introduction: Glucocorticoid treatment remains a challenging aspect in the management of congenital adrenal hyperplasia (CAH). Current strategies for monitoring treatment are suboptimal and rely largely on frequent blood tests, which are traumatising in children and young persons (CYP). Recent evidence indicates a crucial role of 11-oxygenatedC19 androgens in the pathogenesis of CAH.Aim: To explore the use of 11-oxygenat...

hrp0092rfc13.3 | Adrenals and HP Axis | ESPE2019

Establishment of Reference Intervals for Hair Cortisol in Healthy Children Aged 0-18 Years Using Mass Spectrometric Analysis

de Kruijff Ineke , Noppe Gerard , Kieviet Noera , Choenni Vandhana , Lambregtse-van den Berg Mijke , Begijn Dominique , Tromp Ellen , Dorst Kristien , van Rossum Elisabeth , de Rijke Yolanda , van den Akker Erica

Background: Human scalp hair is a valuable matrix for determining long-term cortisol concentrations, with wide-spread applicability in clinical care as well as research. However, pediatric reference intervals are lacking.The aim of this study is to establish age-adjusted reference intervals for hair cortisol in children aged 0-18 years and to gain insight into hair-growth velocity in children up to 2 years old.Methods: A...

hrp0092rfc13.4 | Adrenals and HP Axis | ESPE2019

Loss-Of-Function NNT Mutations Impair Antioxidants Mechanisms and Decreases Cortisol Secretion in Patients with Famililar Glucocorticoid Deficieny

Faccioli Bodoni Aline , Coeli-Lacchini Fernanda , Gebenlian Juliana , Sobral Lays , Moreira Ayrton , Elias Lucila , Silva Wilson , de Catro Margaret , Leopoldino Andréia , Antonini Sonir

Background: The mitochondrial enzyme nicotinamide nucleotide transidrogenase (NNT) is essential in the antioxidant defense mechanisms and appears to be essential to the stages of adrenal steroidogenesis that occur inside the mitochondria.Aim: To characterize how mutations in NNT gene impair adrenal steroidogenesis resulting in familial glucocorticoid deficiency (FGD).Methods: Genom...

hrp0092rfc13.5 | Adrenals and HP Axis | ESPE2019

Genetics of Familial Glucocorticoid Deficiency Over the Decades: Phenotypic Variability and Associated Features

Smith CJ , Maharaj AV , Prasad R , Hughes CR , Clark AJL , Chan LF , Metherell LA

Background: Over the last 25 years more than 410 cases with suspected Familial Glucocorticoid Deficiency (FGD) have been referred to our centre for genetic testing. All cases had low or undetectable serum cortisol paired with an elevated plasma ACTH level. Our patient cohort comprises 352 families from 30 different nationalities and ranges from neonates to patients in their eighties. Mutations in the MC2R were first discovered as causative of FGD in 1...

hrp0092rfc13.6 | Adrenals and HP Axis | ESPE2019

Inhibitory Effects of Curcuminoids on the Enzymes from the Steroidogenic Pathway

Rodríguez Castaño Patricia , Pandey Amit V

Background: Turmeric is a popular ingredient in the cuisine of many Asian countries. It is also known for its use in Chinese and Ayurvedic medicine. It comes from the root of the Curcuma longa. Turmeric is rich in curcuminoids, including curcumin, demethoxycurcumin, and bisdemethoxycurcumin. Curcumin has potent anti-inflammatory and anti-carcinogenic activities. Since many anti-cancer drugs target enzymes from the steroidogenic pathway, we tested the bioactivi...

hrp0092rfc14.1 | Adrenals and HP Axis | ESPE2019

PAPP-A2 Deficiency Results in Sex-Dependent Modifications in Hypothalamic Regulation of Energy Homeostasis

Rivera Patricia , Vargas Antonio , Bonsón Javier , Christians Julian , Rodríguez de Fonseca Fernando , Chowen Julie , Suárez Juan , Argente Jesús

Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability affecting postnatal growth. Mutations in human PAPP-A2 cause short stature and changes in bone size and mineral density. The present study aimed to characterize the effects of constitutive Pappa2 gene deletion on hypothalamic regulation of energy homeostasis in adult male and female mice. In addition to being sho...

hrp0092rfc14.2 | Adrenals and HP Axis | ESPE2019

Deciphering Genetic Aetiology Among Children Born Small-For-Gestational-Age with Persistent Short Stature (SGA-SS): Phenotypic Characteristics at Diagnosis in a Large Single-Centre Cohort

Toni Ledjona , Plachy Lukas , Kucerova Petra , Elblova Lenka , Sumnik Zdenek , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Pruhova Stepanka , Lebl Jan

Background: SGA-SS is a heterogeneous condition defined as birth weight and/or birth length below -2SD for gestational age and postnatal height below -2.5SD, according to age-and sex-specific normative values. Despite being an indication for growth hormone (GH) therapy for 15 years, aetiology and prediction of treatment outcomes in most of SGA-SS children awaits elucidation.Aim: To decipher genetic aetiologies among a la...

hrp0092rfc14.3 | Adrenals and HP Axis | ESPE2019

MicroRNAs Change and Target Key Regulatory Genes Involved in Longitudinal Growth in Patients with Idiopathic Isolated Growth Hormone Deficiency (IGHD) on Growth Hormone (GH) Treatment

Cirillo Francesca , Catellani Cecilia , Lazzeroni Pietro , Sartori Chiara , Ravegnini Gloria , Bonvicini Federico , Predieri Barbara , Amarri Sergio , Iughetti Lorenzo , Angelini Sabrina , Elisabeth Street Maria

The growth response in patients undergoing GH treatment is variable depending both on the patient's basal conditions and on personal innate sensitivity to therapy. MicroRNAs (miRNAs) are epigenetic regulators of gene expression, and are recognised as important regulators of biological and metabolic processes. It is unknown at present whether miRNAs could be early biomarkers of response to GH treatment in a perspective of individualised medicine, and whether they could disc...

hrp0092rfc14.4 | Adrenals and HP Axis | ESPE2019

GHR Transcript Heterogeneity May Explain the Phenotypic Variability in Patients with Homozygous GHR Pseudoexon (6ψ) Mutation

Chatterjee Sumana , Rose Steven J , Mushtaq Talat , Cottrell Emily , Maharaj Avinaash V , Williams Jack , Savage Martin O , Metherell Loiuse A , Storr Helen L

Objectives: The homozygous GHR pseudoexon (6ψ) mutation leads to aberrant splicing of the GHR gene with clinical and biochemical heterogeneity. We investigated whether the phenotypic variability could be explained by transcript heterogeneity i.e. ratio of abnormal (6ψ GHR) to normal (WT GHR) transcripts and/or the presence of concurrent defects in other short stature (SS) genes.Methods: 6&#968...

hrp0092rfc14.5 | Adrenals and HP Axis | ESPE2019

Bioactive IGF-I Concentration Compared to Total IGF-I Concentration Before and After 1 Year of High-Dose Growth Hormone in Short Children Born Small for Gestational Age - North European SGA Study (NESGAS)

Beck Jensen Rikke , Gersel Wegmann Mathilde , Thankamony Ajay , Roche Edna , Hoey Hilary , Kirk Jeremy , Ivarsson Sten-A. , Söder Olle , Frystyk Jan , Dunger David B. , Juul Anders

Background: Children born small for gestational age (SGA) exhibit wide variations in the activity of growth hormone (GH)/insulin–like growth factor–I (IGF-I) axis and this heterogeneity may result in supra physiological concentrations of IGF-I during GH treatment. The long-term effects of elevated IGF-I levels has been a matter of concern. We explored the variations in total IGF-I and bioactive IGF-I and the associations with growth and glucose metab...

hrp0092rfc14.6 | Adrenals and HP Axis | ESPE2019

Growth Hormone Deficiency (GHD): Assessing Burden of Disease in Children and Adolescents: The Growth Hormone Deficiency – Child Impact Measure (GHD-CIM)

Brod Meryl , Højby Rasmussen Michael , Vad Knud , Alolga Suzanne , Bedoin Jacques

Background: Children with growth hormone deficiency (GHD) may have to deal with practical, emotional, and functional difficulties. Unfortunately, to date, there is no condition specific measure of the impact of GHD for these children. The Growth Hormone Deficiency – Child Impact Measure (GHD-CIM) was developed according to FDA/EMA guidances to address this gap. There are two GHD-CIM versions: child self-report (PRO) for ages 9 to <13 years and observe...