hrp0094p2-370 | Pituitary, neuroendocrinology and puberty | ESPE2021

Size Matters: CAG Repeat Length of the Androgen Receptor Gene, Testosterone, and Male Adolescent Depression Severity

Hirtz Raphael , Libuda Lars , Hinney Anke , Focker Manuel , Buhlmeier Judith , Antel Jochen , Holterhus Paul-Martin , Kulle Alexandra , Kiewert Cordula , Hebebrand Johannes , Grasemann Corinna ,

Background: There is a distinct increase in the prevalence of depression with the onset of puberty. The role of peripubertal testosterone levels in boys in this context is insufficiently understood. Moreover, the number of CAG repeats of the androgen receptor gene (AR) and the depression status (subclinical vs. overt depression) may modulate the role of testosterone, but this has not yet been studied in a clinical sample.Methods:...

hrp0097rfc1.6 | Adrenals and HPA Axis | ESPE2023

Interlaboratory comparison of LC-MS/MS measurements of 11 relevant steroid hormones in 27 DSD patients

Kulle Alexandra , Lamprecht Tabea , Caliebe Amke , Blankenstein Oliver , Neumann Uta , Reisch Nicole , Bidlingmaier Martin , Döhnert Ulla , Hiort Olaf , Holterhus Paul-Martin

Background: Adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) develop an adverse metabolic and cardiovascular risk profile. Both over- and undertreatment with glucocorticoids are associated with these adverse metabolic effects. There is limited data available of changes in cardiovascular parameters during lifetime.Objective: This study aimed to evaluate unfavorable changes in cardiovascu...

hrp0097p1-121 | Growth and Syndromes | ESPE2023

First year reponse to growth hormone (GH) therapy is related to long term outcome in GH deficiency (GHD) but not in children born small for gestational age (SGA)

Hartmann Gabriele , Ertl Diana-Alexandra , Raimann Adalbert , Haufler Florentina , Gleiss Andreas , Ashraf Soliman , Mai Alqubasi , Tawa Olukade , Hamdy Ali , Mohamed Alturk , Nada Alaaraj , Noor Hamed , Shayma Ahmed

In the history of biosynthetic GH, first prediction models on long term outcome of therapy were based on large multinational cohorts of various growth disorders and have concentrated on GH dose. In this study we analyzed the 1st year and final height (FH) data in a large single center cohort (center of expertise for rare growth disorders) and compared patient outcome and predictions in GHD and SGA. Our aim was to predict treatment outcome using simple previously suggested para...

hrp0097p2-53 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Case report of an 18-month child with profound osteopenia, hypotonia, respiratory distress and RSV bronchiolitis, on a background of vitamin D dependent rickets type 1 (VDDRI): Acute management and 6 months follow-up.

Statha Eleni , Paltoglou George , Doulgeraki Artemis , Vakali Eleni , Vlachopapadopoulou Elpis , Economou Stavroula , Sakou Irini-Ikbale , Soldatou Alexandra , Karavanaki Kyriaki , Frysira Elena

Aim: Case report of an 18-month-old child with a background of vitamin D dependent rickets type 1(VDDR1)], due to a mutation of CYP27B1 (c.1319_1325dup and c.335C>T: compound heterozygote).Methods: Presentation of the case and the management of hypocalcemia as well as the complications of follow-up.Results: The patient presented at the A&Es of the 2nd Department of Pediatric...

hrp0092fc9.3 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

DNA Methylation Signatures in Placenta and Umbilical Cord: Association with Maternal Obesity

Mas-Pares Berta , Xargay-Torrent Silvia , Gomez-Vilarrubla Ariadna , Lizarraga-Mollinedo Esther , Martínez-Calcerrada Jose-María , Bonmatí-Santané Alexandra , de Zegher Francis , Ibáñez Lourdes , López-Bermejo Abel , Bassols Judit

Background and Objectives: Offspring born to obese mothers are at an increased risk of chronic disease including type 2 diabetes (T2D), obesity, hypertension, cardiovascular disease (CVD), non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). This metabolic programming is produced, in part, by epigenetic changes such us DNA methylation. We postulated that obesity exposure impacts the offspring's methylome and used an epigenomic approa...

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...

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...

hrp0089rfc3.1 | Diabetes and Insulin 1 | ESPE2018

Diagnostics of Early Atherosclerosis Risk in Kids (DEAR-Kids): Retinal Vessel Analysis in Pediatric Type 1 Diabetes – Retinal Arteriolar Narrowing Caused By High HbA1c

Wurm Michael , Leonie Kuhnemund , Maier Lisa , Mi Xia , Lichte Kai , Hallermann Kristiane , Krause Alexandra , Brichta Corinna , van der Werf-Grohmann Natascha , Krebs Andreas , Hanssen Henner , Deibert Peter , Schwab Karl Otfried

Background/Objective: Micro-and macrovascular changes are the cause for diabetes complications. Retinal vessel analysis is a unique method to examine microvascular changes in brain derived vessels.Subjects/Methods: Sixty-seven pediatric and adolescent type 1 diabetes patients and 58 healthy control persons underwent nonmydriatic retinal photography of both eyes. Arterioles and venules positioned in the region 0.5 to 1 diameter of the optic disc measured ...

hrp0089p1-p127 | Fat, Metabolism and Obesity P1 | ESPE2018

PCSK9 and Lp(a) Levels of Children Born after Assisted Reproduction Technologies

Kosteria Ioanna , Terentes-Printzios Dimitrios , Koutagiar Iosif , Vlachopoulos Charalambos , Gkourogianni Alexandra , Sakka Sophia , Skoumas Ioannis , Miliou Antigoni , Papassotiriou Ioannis , Loutradis Dimitrios , Chrousos George P , Tousoulis Dimitrios , Kanaka-Gantenbein Christina

Background/Aims: Since the introduction of Assisted Reproduction Technologies (ART), including classic In Vitro Fertilization (IVF) and Intacytoplasmic Sperm Injection (ICSI), in clinical practice, several studies have addressed concerns regarding the long-term health of the offspring, revealing indications of an adverse cardiometabolic outcome. Proprotein convertase subtilisin/kexin type 9 (PCSK9) circulating level is significantly associated with an increased risk of cardiov...

hrp0086p2-p498 | Fat Metabolism and Obesity P2 | ESPE2016

A Comprehensive and Multidisciplinary Management Plan is Extremely Effective at Reducing the Prevalence of Overweight and Obesity in Childhood and Adolescence

Genitsaridi Sofia , Karampatsou Sofia , Papageorgiou Ifigeneia , Papadopoulos Georgios , Farakla Ioanna , Koui Eleni , Georgiou Alexandra , Romas Stamatis , Terzioglou Eleni , Papathanasiou Chryssanthi , Kassari Penio , Giannios Christos , Nicolaides Nicolas C , Manios Yannis , Charmandari Evangelia

Background: Obesity in childhood and adolescence represents a major health problem of our century, and accounts for a significant increase in morbidity and mortality in adulthood. In Greece, more than 30–35% of children and adolescents are overweight or obese.Objective and hypotheses: To investigate the effectiveness of a comprehensive and personalized multidisciplinary management plan in reducing the prevalence of overweight and obesity in childhoo...