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...

hrp0097p1-399 | Adrenals and HPA Axis | ESPE2023

Transcriptome profiling evaluation of pediatric adrenocortical tumors (pACT) reveals a favorable-prognosis transcription signature and potential therapeutic targets.

Carolina Bueno Ana , Milton P da Silva Jr Rui , F Stecchini Mônica , Marrero-Gutiérrez Junier , A Cardinalli Izilda , Junqueira Tais , A Scrideli Carlos , AF Molina Carlos , Tucci Silvio , B Coeli-Lacchini Fernanda , C Moreira Ayrton , NZ Ramalho Leandra , R Brandalise Silvia , A Yunes Jose , ZN Vêncio Ricardo , de Castro Margaret , R Antonini Sonir

Aim: To uncover a feasible tumor expression prognostic signature and potential therapeutic targets for children with pACT.Methods: Tumor RNAseq from 53 pACT children (70% girls, median age: 1.7yrs) was performed (Illumina). Using a robust, state-of-the-art, differential gene expression analysis pipeline, differentially expressed genes (DEGs: adjusted P<0.05 and |log2 fold-change|>1) were identified (DESeq2...

hrp0092p1-410 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Sertoli Cell Function after Chemotherapy in Boys with Hematologic Malignancies

Grinspon Romina P. , Arozarena Maria , Prada Silvina , Bargman Graciela , Sanzone María , Morales Bazurto Marjorie , Kanneman Ana , Bedecarrás Patricia , Gutiérrez Marcela , Gottlieb Silvia , Berenstein Ariel J. , Gabriela Ropelato María , Bergadá Ignacio , Aversa Luis , Rey Rodolfo A.

Introduction: Gonadotoxicity associated with chemotherapy of hematologic malignancies has been described mainly in adults, focused on the sensitivity of germ cells. Little attention has been placed on Sertoli cells during childhood and puberty, even though Sertoli cell development is essential for adult spermatogenesis.Objective: To assess function of the pituitary-testicular axis, with emphasis on Sertoli cell function,...

hrp0092p1-300 | Adrenals and HPA Axis (2) | ESPE2019

Growth Trajectory and Final Height in Children with Non Classical Congenital Adrenal Hyperplasia

Wasniewska Malgorzata , Morabito Letteria Anna , Baronio Federico , Einaudi Silvia , Salerno Maria Carolina , Bizzarri Carla , Russo Gianni , Chiarito Mariangela , Grandone Anna , Guazzarotti Laura , Spinuzza Antonietta , Di Carlo Silvia , Ortolano Rita , Balsamo Antonio , Abrigo Enrica , Ferroli Barbara Baldini , Alibrandi Angela , Capalbo Donatella , Faienza Maria Felicia

Background: Subjects with non classical congenital adrenal hyperplasia (NCCAH) often present an increased growth velocity secondary to elevation of adrenal androgens that promote early bone maturation and compromise final height (FH). The aim of the study was to analyze prognostic factors affecting growth trajectory and FH in children with NCCAH.Design: retrospective, multicentric studyStud...

hrp0089p1-p139 | Fetal, Neonatal Endocrinology and Metabolism P1 | ESPE2018

Transient Neonatal Iatrogenic Hypothyroidism due to Iodinated Contrast

Harenstam Ulrika , Hafstrom Ola , Reims Annika

Introduction: Iodine is necessary for thyroid hormone synthesis, but when exposed to large quantities, iodine may have an inhibitory effect on hormone synthesis leading to hypothyroidism, known as the Wolff-Chaikoff effect. Newborns may be exposed to iodine through various events in early life. In 2012 three index cases with suspected iatrogenic hypothyroidism due to iodinated contrast exposure were discovered at the Neonatal department, The Queen Silvia Children’s Hospit...

hrp0095fc7.3 | Growth and Syndromes | ESPE2022

Italian long-term data on efficacy and safety of rhGH therapy in children with SHOX deficiency: the final report of a national survey performed into ISPED Growth Study Group.

Bruzzi Patrizia , Vannelli Silvia , Scarano Emanuela , Elisabeth Maria , Parpagnoli Maria , Salerno Mariacarolina , Secco Andrea , Andrea Trettene Adolfo , Wasniewska Malgorzata , Pitea Marco , Faienza Mariafelicia , Delvecchio Maurizio , Corciulo Nicola , Tornese Gianluca , Filomena Madeo Simona , Iughetti Lorenzo

Background: Among children with idiopathic short stature, Italian data reported a prevalence of short stature homeobox-containing gene (SHOX) deficiency disorders (SHOX-D) near to 1/1.000-2.000 (1.1-15%) with a wide phenotypic spectrum. Current guidelines support recombinant human growth hormone (rhGH) therapy in SHOX-D children, but long-term data are still lacking. This national survey aims to evaluate long-term efficacy and safety of rhGH therapy in Italian...

hrp0095p1-413 | Adrenals and HPA Axis | ESPE2022

Incidence and severity of Coronavirus Disease 2019 (COVID-19) in children with primary and secondary adrenal insufficiency during the pandemic in Italy

Moracas Cristina , Russo Gianni , Baronio Federico , Ortolano Rita , Rita Stancampiano Marianna , Cavarzere Paolo , Zoller Thomas , Longhi Silvia , Felicia Faienza Maria , Patti Giuseppa , Elisabeth Street Maria , Guzzetti Chiara , Valenzise Mariella , Giavoli Claudia , Salerno Mariacarolina , Capalbo Donatella

Background: Adrenal insufficiency (AI) is a rare condition caused by an inadequate production of glucocorticoids. Preliminary data in adults suggest that AI could be associated with an increased susceptibility to infections; moreover, AI patients are at risk to develop a severe course of infectious diseases and to experience a life-threatening adrenal crisis. The aim of our study is to evaluate the severity and the outcome of COVID-19 in pediatric AI patients ...

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...

hrp0092rfc4.3 | Fat Metabolism and Obesity Session | ESPE2019

Dysregulated Gene Expression Profile in Visceral Adipose Tissue of Juvenile Wistar Rats with Catch-Up Growth: Association with Fat Expansion and Metabolic Parameters

Lizárraga-Mollinedo Esther , Carreras-Badosa Gemma , Remesar Xavier , Xargay-Torrent Silvia , Mas-Parés Berta , Prats-Puig Anna , de Zegher Francis , Ibáñez Lourdes , López-Bermejo Abel , Bassols Judit

Background: Accelerated catch-up growth following intrauterine growth restriction increases the risk of developing visceral adiposity and metabolic syndrome. Animal models of growth restriction during gestation have been developed as a powerful tool to provide insight into the underlying molecular mechanisms thereof.Objective: To analyze the patterns of gene expression in the retroperitoneal adipose tissue of rats with i...

hrp0092rfc11.2 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Prevalence and Predicting Factors of Endocrine Dysfunction in Children with NF1 and Optic Gliomas

Santoro Claudia , Perrotta Silverio , Scilipoti Martina , Cirillo Mario , Quaglietta Lucia , Cinalli Giuseppe , Cioffi Daniela , Di Iorgi Natascia , Gallizia Annalisa , Maghnie Mohamad , Parpagnoli Maria , Messa Federica , Vannelli Silvia , De Sanctis Luisa , Marzuillo Pierluigi , del giudice Emanuele Miraglia , Grandone Anna

Introduction:Up to 20% of children with neurofibromatosis type 1 (NF1) develops low-grade optic pathway gliomas(OPGs) that can result in neuroendocrinopathy.The aim of the study was to identify prognostic factors for developing neuroendocrinopathies in patients with NF1 and OPGs before any treatment.Methods: Records of 117 children with NF1 and OPGs followed at 4 Italian centers between 1997-20...