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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.

Poster Category 1

Adrenals and HPA Axis

hrp0092p1-1 | Adrenals and HPA Axis | ESPE2019

Could a Glucocorticoid Receptor Polymorphism be Protective against Hypothalamic-Pituitary-Adrenal Axis Suppression in Asthmatic Children on Corticosteroids?

Akurugu Wisdom Alemya , Van Heerden Carel Jacobus , Vorster Anna Alvera , Lesosky Maia , Mulder Nicola , Zöllner Ekkehard Werner

Background: Homozygotes for the single nucleotide polymorphisms (SNPs) rs242941 and rs1876828 of the corticotrophin-releasing hormone receptor 1 (CRHR1) gene were previously associated with lower stimulated and basal cortisol levels respectively in asthmatic children on inhaled corticosteroids. Heterozygotes for rs41423247 of the glucocorticoid receptor (NR3C1) gene were found to have higher basal cortisol levels.Objectives</stro...

hrp0092p1-2 | Adrenals and HPA Axis | ESPE2019

Software-assisted Analysis of the Urinary Steroid Metabolom in Treated Children with Classic Congenital Adrenal Hyperplasia

Kamrath Clemens , Hartmann Michaela F. , Wudy Stefan A.

Background: Treatment of children with classic congenital adrenal hyperplasia (CAH) is a difficult balance between hypercortisolism and hyperandrogenism. Biochemical monitoring of treatment is not well defined.Objective: Retrospective software-assisted analysis of urinary steroid metabolome analysis obtained by gas chromatography-mass spectrometry (GC-MS) for treatment monitoring of children with CAH.<p class="abstex...

hrp0092p1-3 | Adrenals and HPA Axis | ESPE2019

Simplifying the Interpretation of Steroid Metabolome Data by a Machine-Learning Approach

Kirkgoz Tarik , Kilic Semih , Abali Zehra Yavas , Yaman Ali , Kaygusuz Sare Betul , Eltan Mehmet , Turan Serap , Haklar Goncagul , Sagiroglu Mahmut Samil , Bereket Abdullah , Guran Tulay

Background: Liquid chromatography-mass spectrometry (LC-MS) based panels of steroid hormones and their precursors offer a distinct pattern of steroid metabolome for various disorders of adrenal and gonadal steroidogenesis. However, it may not be easy to handle this high throughput data rapidly in clinical setting which requires expert opinion for correct interpretations. Analytical results of steroid panelling can be allied to automated review systems to simpl...

hrp0092p1-4 | Adrenals and HPA Axis | ESPE2019

The Steroidal Milieu in Amniotic Fluid of Mid-Gestation: A Targeted GC-MS Metabolomics Study

Wang Rong , Hartmann Micheala , Tiosano Dov , Wudy Stefan A.

Intact steroid hormone biosynthesis is essential for growth and development of the human fetus and embryo. In the present study, gas chromatography-mass spectrometry was employed to characterize the steroidal milieu in amniotic fluid (n=65; male: female = 35: 30) of mid-gestation (median: 18.8th week, range: 16.0th – 24.6th week) by a comprehensive targeted steroid hormone metabolomics approach. The levels of 52 steroids i...

hrp0092p1-5 | Adrenals and HPA Axis | ESPE2019

18 years of neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: recall rate reduction thanks to liquid chromatograpy-tandem mass spectrometry as second tier test

cavarzere paolo , Palma Laura , Lauriola Silvana , Gaudino Rossella , Vincenzi Monica , Teofoli Francesca , Antoniazzi Franco , Camilot Marta

Background: In North-Eastern Italy, a newborn screening for congenital adrenal hyperlpasia (CAH) has been taking place since 2001 to diagnose the classical form of 21-hydroxylase deficiency (21-OHD). Thanks to the screening program based on 17-OHP levels in dried blood spots, early diagnosis of CAH is possible, allowing appropriate precocious treatment and reducing mortality rates. Unfortunately, a high false positive rate, especially in preterm, low-birth-wei...

hrp0092p1-6 | Adrenals and HPA Axis | ESPE2019

Health status of children with Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency in the United Kingdom: results of a multi-centre cohort study

Bacila Irina-Alexandra , Mahdi Sundus , Acerini Carlo L , Krone Ruth , Patel Leena , Alvi Sabah , Randell Tabitha , Gevers Evelien , Dattani Mehul , Cheetham Timothy , Kyriako Andreas , Ryan Fiona , Crowne Elizabeth , Davies Justin H , Ahmed S. Faisal , Krone Nils P

Introduction: Congenital adrenal hyperplasia (CAH) is associated with long-term health problems. However, little is known about co-morbidities and their onset in children and young persons (CYP).Objective: To establish the health status of CYP with CAH across the United Kingdom.Methods: A multi-centre prospective study recruited 102 patients with 21-hydroxylase deficiency targeting...

hrp0092p1-7 | Adrenals and HPA Axis | ESPE2019

Influence of Internal Standards Choice on Quantification of 17α-hydroxyprogesterone (17OHP) Using Mass Spectrometric Based Methods

Greaves Ronda , Hartmann Michaela F. , Zakaria Rosita , Shun Ho Chung , de Rijke Yolanda B. , van den Berg Sjoerd , Cooke Brian , Hoad Kirsten , Graham Peter , Davies Stephen , Mackay Lindsey , Ping Loh Tze , Wudy Stefan A.

Objective: This project aims to evaluate the effect of two isotopically labelled internal standards on the quantification of 17OHP by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and gas chromatography-tandem mass spectrometry (GC-MS/MS) as an orthogonal technique.Methods: Three LC-MS/MS and one GC-MS/MS laboratories, spanning four countries worldwide, who routinely measure serum17OHP, compared two internal ...

hrp0092p1-8 | Adrenals and HPA Axis | ESPE2019

Follow-up and Prevalence of Precocious Puberty in Children with Classical Congenital Adrenal Hyperplasia diagnosed by Neonatal Screening

Gonzalez Veronica , Reinoso Andrea , Vitale Laura , Morin Analia , Fasano Victoria , Tournier Andrea , Balbi Viviana

Introduction: In children with classical congenital adrenal hyperplasia(CCAH) linear growth allows monitoring metabolic control. Precocious puberty could compromise their growth. There are few studies in patients with CCAH diagnosed by neonatal screening(NS) about this subject.Aims: To analyze linear growth and precocious puberty in children with CCAH detected by NS.Method: Thirty-...

hrp0092p1-9 | Adrenals and HPA Axis | ESPE2019

A Simulation-based Intervention Teaching Illness Management Skills to Caregivers of Children with Adrenal Insufficiency: a Randomised Controlled Study

Virtanen Heidi , Pyra Eileen , Schawrz Wendy , Catena Helen , Cripps Amy , Grant Vincent , Cheng Adam , Perry Rebecca

Background: Permanent adrenal insufficiency (AI) is an uncommon but potentially life-threatening condition in children. Patients are at particular risk during times of stress. Thus, caregivers should have good illness management skills. Despite frequent teaching and seemingly good knowledge of illness management we still see a reluctance of caregivers to administer intramuscular (IM) hydrocortisone at home when indicated, preferring instead to drive themselves...

hrp0092p1-10 | Adrenals and HPA Axis | ESPE2019

Global Practice of Glucocorticoid and Mineralocorticoid Treatment in Children and Adults with Congenital Adrenal Hyperplasia – Insights from the I-CAH Registry

Bacila Irina-Alexandra , Blankenstein Oliver , Neumann Uta , van der Grinten Hedi L Claahsen , Krone Ruth , Acerini Carlo , Bachega Tania SS , Miranda Mirella C , Mendonca Berenice , Birkebaek Niels H , Cools Martine , Milenkovic Tatjana , Bonfig Walter , Tomlinson Jeremy , Elsedfy Heba , Balsamo Antonio , Hannema Sabine , Higham Claire , Atapattu Navoda , Lichiardopol Corina , Guran Tulay , Abali Zehra , Mohnike Klaus , Finken Martijn JJ , Vieites Ana , Darendeliler Feyza , Guven Ayla , Korbonits Marta , de Vrie Liat , Costa Eduardo , Einaudi Silvia , van der Kamp Hetty , Iotova Violeta , Ross Richard , Faisal Ahmed S , Krone Nils P

Introduction: Despite existing guidelines there is no unified approach to glucocorticoid and mineralocorticoid replacement in congenital adrenal hyperplasia (CAH). Consequently, treatment varies in adults and children as well as across countries.Objective: We used data from the I-CAH Registry to identify geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids of children and adul...

hrp0092p1-11 | Adrenals and HPA Axis | ESPE2019

Assessment of the Adrenal Function in Children with Acute Lymphoblastic Leukemia Before and After Induction Therapy with Corticosteroids

Dhawi Naji Walad , Khater Doaa , Al-Yaarubi Saif , Ullah Irfan Ullah , Wali Yasser

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer in children. Corticosteroids are the cornerstone in treatment of pediatric ALL. Steroids can cause several side effects including secondary adrenal insufficiency with disruption of cortisol response to stress causing morbidity and even mortality in those children.Objective: To assess the adrenal gland function of children with ALL before and after i...

hrp0092p1-12 | Adrenals and HPA Axis | ESPE2019

Trientine Treatment Mimicking Severe Hyperandrogenism

Binder Gerhard , Weber Karin , Wudy Stefan A. , Holterhus Paul-Martin , Hartleif Stefan

Drugs can interfere with immunoassays causing false measurements. Trientine (triethylene tetramine dihydrochloride) is a chelator of copper and is used in the treatment of patients with Wilson's disease as alternative for penicillamine. Trientine mainly increases urinary copper excretion leading to a negative copper balance. Serum concentrations of trientine reached under treatment are not known. This is the first report of an interference of trientine with two chemilumine...

hrp0092p1-13 | Adrenals and HPA Axis | ESPE2019

Cytokines and the Impairment of Puberty

Shlyachova Natalia , Turchina Svetlana

The changes of the immune reactivity, the production of hormones and the neuroendocrinal regulation of immune homeostasis are the entities closely connected with the puberty. There is evidence for the role of cytokines in securing of intersystemic interaction as well as for the influence of reproductive hormones on the cytokine production. However, the question as to the role of cytokine in the formation of delayed puberty continues to be relevant.<stron...