hrp0095p1-397 | Thyroid | ESPE2022

Molecular Diagnosis of Non-Autoinmune Subclinical Hypothyroidism in Paediatrics

Gonzalez-Llorens Nuria , Antolin Mate Maria , Clemente Leon Maria , Campos Martorell Ariadna , Mogas Viñals Eduard , Soler Colomer Laura , Tomasini Rosangela , Gonzalez-Morla Judith , Murillo Valles Marta , Aguilar Riera Cristina , Casano Sancho Paula , Bosch Muñoz Jordi , Escuer Morell Mercè , Ortigosa Gomez Sandra , Hernandez-Herrero Maria , Feliu Rovira Albert , Camats-Tarruella Nuria , Baz-Redon Noelia , Fernandez-Cancio Monica , Yeste Fernandez Diego

Introduction: Subclinical hypothyroidism (SH) is a biochemical condition characterized by serum levels of TSH above the reference range upper limit (4,5μUI/mL), with normal concentrations of thyroid hormones. In cases of non-autoimmune subclinical hypothyroidism (NASHT), genetic defects have been described and can determine disorders in the biosynthesis process of thyroid hormones, such as heterozygous mutations in the TSH receptor gene (TSHR) and ...

hrp0094fc1.6 | Adrenal | ESPE2021

Tumor DNA methylation profiling as a prognostic marker for pediatric patients with adrenocortical tumors

Bueno Ana Carolina , da Silva Rui M P , Stecchini Monica F. , Gutierrez Junier M , Cardinalli Izilda A , Scrideli Carlos A , Junqueira Thais , Molina Carlos A F , Ramalho Fernando S , Tucci Silvio , Coeli-Lacchini Fernanda B , Moreira Ayrton C , Ramalho Leandra N Z , Brandalise Silvia R , Yunes Jose A , de Castro Margaret , Vencio Ricardo Z N , Antonini Sonir R ,

Abnormal DNA methylation contributes to tumor progression and is emerging as a prognostic marker in several types of cancers. To investigate whether DNA methylation is associated with pediatric adrenocortical tumor (pACT) presentation and patient prognosis, we analyzed the methylation profile of 57 tumors (MethylationEPIC BeadChip Array-Illumina) and patients’ clinicopathological features and outcome. The study comprehended 40 girls and 17 boys, with median age at diagnos...

hrp0097p1-200 | Adrenals and HPA Axis | ESPE2023

Evaluation of chromatin remodeling factors ATRX and DAXX and telomeres in pediatric adrenocortical tumors.

F Stecchini Monica , Carolina Bueno Ana , R de Campos Mateus , Marrero-Gutiérrez Junier , A Cardinalli Izilda , Junqueira Tais , A Scridelli Carlos , AF Molina Carlos , Tucci Silvio , B Coeli-Lacchini Fernanda , C Moreira Ayrton , S Ramalho Fernando , NZ Ramalho Leandra , R Brandalise Silvia , A Yunes Jose , Chahud Fernando , ZN Vêncio Ricardo , de Castro Margaret , R Antonini Sonir

Background: Impairment of the chromatin remodeling factors ATRX and DAXX and telomeres abnormality play a role in cancer biology, influencing the clinical outcomes. However, their roles in adrenal tumorigenesis require broader investigation.Aim: To evaluate ATRX and DAXX genotype and expression, telomere length, and the alternative lengthening of telomeres (ALT), as well as their clinical significance, in primary adrenoc...

hrp0098p2-20 | Adrenals and HPA Axis | ESPE2024

Clinical spectrum and outcome of adrenocortical tumours in children

Shoukat Muhammad , Aftab Sommayya , Alam Muhammad , Saddam Hussain Syed , Zaman Samina , Talat Nabeela , Manzoor Jaida

Background: Adrenocortical tumors are rare tumors in children with very limited data to reveal outcome in resource- limited settings.Materials and Methods: A retrospective cohort study was carried out to evaluate medical records of 24 children with adrenocortical tumors, who were registered at our tertiary care hospital from Jan 2012 to date.Results: Total 24 children were included...

hrp0089p1-p179 | Growth & Syndromes P1 | ESPE2018

Beckwith Wiedemann Syndrome: First International Consensus Regarding Diagnosis and Clinical Management

Brioude Frederic , Kalish Jennifer M. , Mussa Alessandro , C. Foster Alison , Bliek Jet , Ferrero Giovanni B. , Boonen Susanne E. , Baker Robert , Bertoletti Monica , Cocchi Guido , Coze Carole , Pellegrin Maurizio De , Hussain Khalid , Krajewska-Walasek Malgorzata , Kratz Christian P. , Bouc Yves Le , Maas Saskia M. , Ounap Katrin , Peruzzi Licia , Rossignol Sylvie , Russo Silvia , Shipster Caroleen , Skorka Agata , Tatton-Brown Katrina , Tenorio Jair , Tortora Chiara , Gronskov Karen , Netchine Irene , Hennekam Raoul C. , Prawitt Dirk , Tumer Zeynep , Eggermann Thomas , Mackay Deborah J. G. , Riccio Andrea , Maher Eamonn R.

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...

hrp0095p2-179 | Growth and Syndromes | ESPE2022

The syndrome behind the short stature! The difficult approach in Turner Syndrome with Y-chromosome sequences present

Pascu Bogdan , Cusa Simona

Introduction: Short stature is a term applied to a child whose height is 2 standard deviations (SD) or more below the mean for children of that sex and chronologic age (and ideally of the same racial-ethnic group).Case report: We present a case of a girl aged 12 years, with normal perinatal and neonatal periods, GA=40 weeks, BW=2700 g, BL=49 cm, no medical history, no family history. The clinical exam revealed normal wei...

hrp0097p2-300 | Late Breaking | ESPE2023

Short stature and IGF-1 resistance - unexpected association of Wolf-Hirschhorn Syndrome

Pascu Bogdan , Tala Simona

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder characterised by a "Greek-warrior-helmet" nasal appearance, growth delay, intellectual disability, and seizures. Limited studies exist on the growth evolution of WHS children, particularly regarding growth hormone (GH) therapy. We report a case of a 3-year-old boy with WHS and severe short stature.Case Report: A 3-year-old male child, se...

hrp0092p3-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Growth Hormone Treatment of a Patient with X-Linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth

Rojek Aleksandra , Obara-Moszynska Monika , Niedziela Marek

Background: Hypophosphatemic rickets (HR) stands for a heterogenous group of rare disorders in which excessive renal phosphate wasting is observed. The main characteristics of X-linked HR (XLHR) (OMIM #307800) caused by mutation in PHEX (phosphate-regulating endopeptidase) gene (OMIM *300550) include bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. The patie...

hrp0089p3-p031 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Growth Hormone Treatment of 2 Patients with X-linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth

Rojek Aleksandra , Obara-Moszynska Monika , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene and is characterized mainly by bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. Early treatment with vitamin D and phosphate improves the patient’s growth. Recombinan...

hrp0084p3-869 | Fat | ESPE2015

Severe Hypothalamic Obesity in a Girl with Craniopharyngioma – Case Report

Obara-Moszynska Monika , Harat Marek , Niedziela Marek

Background: Hypothalamic obesity is a form of obesity syndrome associated with a variety of hypothalamic disorders including intracranial tumors, infections, trauma, vascular problems and hydrocephalus and acquired or congenital functional defects in central energy homeostasis. The pathogenetic mechanisms underlying hypothalamic obesity are multifactorial. Weight gain results from the hypothalamus damage, which leads to excessive apetite and low metabolic rate, multiple pituit...