hrp0082wg7.1 | Nurses | ESPE2014

Quality of Life and Anxiety in Adolescents with Differentiated Thyroid Cancer

Benoit Melissa Anne

Background: Clinical observations of children and adolescents with differentiated thyroid cancer (DTC) patients led us to investigate quality of life and anxiety. Although adult DTC survivors have similar or slightly worse quality of life (QOL), this has not been evaluated in the pediatric population.Objective and Hypotheses: In this cross-sectional pilot study, our objective was to compare QOL and anxiety in adolescents with DTC to patients with acquire...

hrp0086fc14.3 | Growth : Mechanisms | ESPE2016

CG at the Methylation IGF1 Locus is an Epigenetic Predictor of GH Sensitivity

Ouni Myriam , Castell Anne Laure , Bougneres Pierre

Background: The growth and IGF1 responses to GH treatment show a large variation across children with idiopathic short stature (ISS). Compliance and GH regimens are important determinants. The d3 variant of the GH receptor (GHR) is a significant genetic predictor. The role of individual epigenetics had not been studied. The IGF1 locus is an attractive candidate where CG methylation could influence GH action.Objectives: To study GH effects on a) IGF1 gene...

hrp0086p1-p900 | Thyroid P1 | ESPE2016

Meta-analysis of Children with Multiple Endocrine Neoplasia (MEN) Type 2A from 1995-2014: Impact of RET Mutation Screening on Age at Thyroidectomy and Frequency of Metastatic Disease

Burckhardt Marie-Anne , Zumsteg Urs , Szinnai Gabor

Background: Medullary thyroid cancer (MTC) in MEN 2A is caused by mutations in RET. Guidelines (2001/2009/2015) recommend prophylactic total thyroidectomy (TT) based on mutation specific risk levels (ATA 2015: high/moderate).Objective: The aim of this study was to analyse changes of age at TT, frequency of metastatic MTC (MMTC), and frequency of TT according to guidelines since introduction of RET testing in 1995....

hrp0084p3-1048 | Growth | ESPE2015

A Rare Cause of Short Stature: the Floating Harbor Syndrome

Kayemba-Kay's Simon , Maillet Odile , Heron Anne

Background: Short stature has several causes ranging from complex hormonal deficiencies mostly related to pituitary gland genetics, to idiopathic and environmental causes such as maternal smoking in pregnancy, etc. Floating harbor syndrome is a rare genetic disorder characterized by short stature, delayed bone age, mild to moderate mental retardation, retarded speech development, and typical facial dysmorphic features. The syndrome is caused by heterozygous mutations in exon 3...

hrp0097rfc12.3 | Thyroid | ESPE2023

Thyroid disorders in childhood cancer survivors treated with 131 I-MIBG, TKIs or immune checkpoint inhibitors: incidence, mechanisms and clinical management – systematic review

Allaert Sarah , Rochtus Anne , Decallonne Brigitte

Background: The thyroid gland is a common unintended target during and after cancer treatment in childhood cancer survivors. However, only a limited number of studies have assessed thyroid adverse events of newer or more selective anticancer drugs. The main objectives of this review are to provide an overview of thyroid disorders in children, treated with 131 I-metaiodobenzylguanidine (131 I-MIBG), tyrosine kinase inhibitors (TKIs) and immune checkpoint inhibi...

hrp0098p2-208 | Multisystem Endocrine Disorders | ESPE2024

A Case of Kearns-Sayer Syndrome Presenting with Hypoglycaemia and Adrenal Insufficiency

Paul Sandipan , Anne Jones Stephanie , Louca Christina

Background: Hypoglycaemia is a common critical condition in paediatric emergencies, with diverse aetiologies including metabolic disorders and endocrine dysfunctions. Adrenal insufficiency is a life-threatening cause, that requires prompt diagnosis and intervention. This case study presents a rare incidence of hypoglycaemia secondary to adrenal failure in a paediatric patient with Kearns-Sayre Syndrome (KSS), a mitochondrial disorder affecting multiple systems...

hrp0098p3-169 | Growth and Syndromes | ESPE2024

Parental decision-making after receiving a prenatal diagnosis of Turner syndrome: A qualitative interview study

Dorf Inger , Lou Stina , Skakkebæk Anne

Background and study setting: Turner syndrome (TS) is characterized by either a complete or partial loss of one X-chromosome, resulting in the 45,X karyotype or variants hereof. In Denmark, around 42% of TS foetuses are prenatally detected, most commonly during the first trimester screening, which is offered to all women as part of the free prenatal care. Of these, 69% are terminated. Prior studies have identified several factors influencing parental decision ...

hrp0097p1-510 | Growth and Syndromes | ESPE2023

Tuberous sclerosis complex 1 (TSC1) deficiency leads to increased proliferation of adipose progenitor cells – case report and in vitro studies

Garten Antje , Hentschel Julia , Richter Sandy , Kiep Henriette , Arelin Maria , Platzer Konrad , Merkenschlager Andreas , Kiess Wieland , Mayer Steffi , Abou Jamra Rami , Le Duc Diana , Gerthe Kerkhof , Anita Hokken-Koelega

Introduction&Aim: Activation of mechanistic target of rapamycin (mTOR) as a major regulator of adipogenesis and lipid accumulation is controlled by upstream regulators hamartin/tuberous sclerosis complex (TSC) 1 and tuberin/TSC2. Hamartin and tuberin form a protein complex that inhibits signal transduction to mTOR. The impact of TSC1 deficiency is not clearly defined in human adipose tissue. We identified a likely pathogenic TSC1 splicing variant in a lipo...

hrp0098p1-87 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2024

Phenotypic characteristic of a large cohort of pediatrics Argentine patients with PSIS. High Prevalence of Mutations in ROBO1 gene

Isabel Di Palma María , Plomer Paula , Marino Roxana , Perez Garrido Natalia , Belgorosky Alicia , Ramirez Pablo , Manuel Lazatti Juan , Inés Perez Millán María , Perticarari Catalina , Martinez Mayer Julián , Ciaccio Marta

Introduction: Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder characterized by absent, thin, or interrupted pituitary stalk, absent or ectopic neurohypophysis, and hypoplasia or aplasia of the adenohypophysis. It often accompanies midline abnormalities and diverse endocrine dysfunction, with its etiology largely unknown. Recent reports have linked mutations in the ROBO1 gene to PSIS.Aim: To des...

hrp0098p2-205 | Multisystem Endocrine Disorders | ESPE2024

Congenital disorders of glycosylation (CDG): Endocrinological features in a case of twin siblings with a ALG1 gene defect.

Quarracino Malena , Vaiani Elisa , Inés Perez Millán María , Martinez Mayer Julián , Perticarari Catalina , Gallo Adolfo , Cervio Carolina , Isabel Di Palma María , Belgorosky Alicia , Viterbo Gisela , Ciaccio Marta

Introduction: Congenital disorders of glycosylation (CDG) are metabolic conditions resulting from defects in the glycosylation pathway. In addition to the primary neurological symptoms, other possible clinical findings may include distinctive coagulation abnormalities, as well as hepatic, gastrointestinal and, less frequently, hormonal disorders. The ALG1 gene defect is the third most prevalent CDG and compromises β-1,4 mannosyltransferase activity, which...