hrp0094p2-350 | Pituitary, neuroendocrinology and puberty | ESPE2021

Nuchal Skinfold Thickness in Pediatric Brain Tumor Patients

Peng Junxiang , Boekhoff Svenja , Eveslage Maria , Bison Brigitte , Sowithayasakul Panjarat , Muller Hermann L. ,

Background: Severe obesity and tumor relapse/progression have impact on long-term prognosis in pediatric brain tumor patients.Methods: In a cross-sectional study, we analyzed nuchal skinfold thickness (NST) on magnetic-resonance imaging (MRI) follow-up monitoring as a parameter for assessment of nuchal adipose tissue in 177 brain tumor patients (40 World Health Organization (WHO) grade 1–2 brain tumor; 31 grade 3&#1...

hrp0098p1-262 | Growth and Syndromes 4 | ESPE2024

A novel comprehensive bioinformatic strategy could significantly enhance the molecular genetic diagnosis in growth restriction phenotypes

Ishida Miho , Vestito Letizia , V. Maharaj Avinaash , Cipriani Valentina , Smedley Damian , L. Storr Helen

Introduction: Growth restriction (GR) comprises ~50% of new patient referrals to paediatric endocrine clinics with <20% receiving a clear diagnosis. Enhanced genetic testing and stratification leading to tailored clinical care is a fundamental need. Whole-genome sequencing (WGS) was offered to patients recruited to the 100,000 Genomes Project (100 KGP), leading to new diagnoses in ~25% of all rare disease participants. The analysis pipeline uses disease-spe...

hrp0098p2-281 | Thyroid | ESPE2024

Autoimmune Thyroid Disease and Microalbuminuria in Adolescents

Özer Yavuz , Bingöl Aydın Dilek , Evliyaoğlu Olcay

Purpose: The aimof this study is to investigate the presence of microalbuminuria in children and adolescents diagnosed with Graves' Disease (GD) and Hashimoto's thyroiditis (HT) and compare the results with the healthy control group.Materials and Methods: This cross-sectional, single-center study included 35 patients with GH, 29 patients with HT, and 34 healthy control groups. Microalbumin and creatinine measur...

hrp0098p2-397 | Late Breaking | ESPE2024

The molecular genetic etiology of POI in non-Turner syndrome girls diagnosed in childhood or adolescence: A single-center experience

Akın Leyla , Yılmaz Ayşegül , Ilguy Muge , Aydın Murat

Background: Primary ovarian insufficiency (POI), characterized by amenorrhea with elevated gonadotropin concentrations, includes a spectrum ranging from 46, XX gonadal dysgenesis to premature menopause. There is increased evidence that it has a strong genetic basis in its etiology, however, since its rarity and special condition that does not permit the definition of families with this disorder, the molecular diagnosis remains elusive in most of these patients...

hrp0098p2-400 | Late Breaking | ESPE2024

Children's Thyroid Health: Impact and Recovery Patterns

Bingöl Aydın Dilek , Öztürk Esra , Özer Yavuz , Ercan Oya

Introduction: The impact of COVID-19 on the thyroid axis is still unclear. The most recent studies have presented contradictory findings. Theoretically, both direct toxic effects and indirect inflammatory responses can influence thyroid functions. A limited number of studies conducted in pediatric patients have revealed cases of hypothyroidism, hyperthyroidism, and nonthyroidal illness syndrome occurring during the COVID-19 infection.<st...

hrp0094p2-155 | Diabetes and insulin | ESPE2021

Dyslipidaemia in children with type 1 diabetes mellitus

Nikolaeva Nadezhda , Gumeniuk Olga , Bolotova Nina ,

Dyslipidemia is one of the major risk factors for cardiovascular disease in diabetes mellitus. The characteristic features of diabetic dyslipidemia in adults are a high plasma triglyceride concentration, low HDL cholesterol concentration and increased LDL cholesterol. Dyslipidaemia in children with type 1 diabetes mellitus (T1D) have been little studied (P. Lozano et al., 2016; J. D. Schofield et al.,2016; M. Kinoshita et al., 2018; C.Elkins et al., 2019). DECODE studies (Diab...

hrp0084p2-406 | GH &amp; IGF | ESPE2015

Metabolic Health in Short Children Born Small for Gestational Age Treated with GH and GnRHa: Results of a Randomised, Dose-response Trial

van der Steen M , Lem A J , van der Kaay D C M , Waarde W M Bakker-van , van der Hulst F J P C M , Neijens F S , Noordam C , Odink R J , Oostdijk W , Schroor E J , Sulkers E J , Westerlaken C , Hokken-Koelega A C S

Background: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure. Long-term effects and GH-dose effects on metabolic health in children treate...

hrp0089p3-p405 | Multisystem Endocrine Disorders P3 | ESPE2018

Lessons from Wolfram Syndrome: Initiation of DDAVP Therapy Causes Renal Salt Wasting due to Elevated ANP Levels, Rescued by Fludrocortisone Treatment

Kleanthous Kleanthis , Maratou Eirini , Spyropoulou Dora , Dermitzaki Eleni , Bothou Christina , Papadimitriou Anastasios , Zoupanos George , Moutsatsou Paraskevi , Urano Fumihiko , Papadimitriou Dimitrios T.

Background-Hypothesis: Sudden initiation of treatment for diabetes insipidus (DI) with DDAVP causes abrupt volume expansion resulting in particularly high secretion of Atrial Natriuteric Peptide (ANP) (1). ANP blocks all stimulators of zona glomerulosa steroidogenesis, resulting in secondary mineralocorticoid deficiency and acute hyponatremia, causing renal salt wasting (RSW) (2). Cases: Two sisters, a 19-year-old girl (A) and a 7-year-old girl (B) with Wolfra...

hrp0094fc1.2 | Adrenal | ESPE2021

Variation of glucocorticoid dose and biomarkers in children with congenital adrenal hyperplasia – longitudinal analysis of real world data from the I-CAH registry

Lawrence Neil , Bacila Irina , Dawson Jeremy , Bryce Jillian , van den Akker Erica LT , Aparecida Sartori Tania , Bachega Sanchez , Baronio Federico , Holtum Birkebaek Niels , Bonfig Walter , Claahsen Hedi , Costa Eduardo Correa , Devries Liat , Elsedfy Heba , Guvan Ayla , Hannema Sabine , Iotova Violeta , van der Kamp Hetty J , Leon Maria Clemente , Lichiardopol Corina Raducanu , Milenkovic Tatjana , Neumann Uta , Nordenstrom Anna , Poyrazoglu Sukran , Probst-Scheidegger Ursina , Sanctis Luisa De , Thankamony Ajay , Vieites Ana , Yavas Zehra , Ahmed Faisal , Krone Nils ,

Aim: Recommendations for replacement glucocorticoids in CAH suggest a dose per body surface area (BSA) of glucocorticoids of 10-15mg/m2/day to maintain a 17-OH Progesterone (17OHP) level of 12-36 nmol/l across all ages. We used longitudinal analysis to assess whether biomarkers and dose of hydrocortisone varied with age in children within the I-CAH registry .Method: This retrospective multi-centre study, inclu...