ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica
Previous issue | Volume 21 | ESPEYB21

Yearbook of Paediatric Endocrinology 2024

8. Adrenals

New Hope

Previous section
Clinical Trials – New Treatments
Table of contents
Next section
New Genes

ey0021.8-13 | New Hope | ESPEYB21

8.13. The role of interferon-[gamma] in autoimmune polyendocrine syndrome Type 1

V Oikonomou , G Smith , GM Constantine , MM Schmitt , EMN Ferre , JC Alejo , D Riley , D Kumar , Dias L Dos Santos , J Pechacek , Y Hadjiyannis , T Webb , BA Seifert , R Ghosh , M Walkiewicz , D Martin , M Besnard , BD Snarr , S Deljookorani , CR Lee , T DiMaggio , P Barber , LB Rosen , A Cheng , A Rastegar , AA de Jesus , J Stoddard , HS Kuehn , TJ Break , HH Kong , L Castelo-Soccio , B Colton , BM Warner , DE Kleiner , MM Quezado , JL Davis , KP Fennelly , KN Olivier , SD Rosenzweig , AF Suffredini , MS Anderson , M Swidergall , C Guillonneau , LD Notarangelo , R Goldbach-Mansky , O Neth , MT Monserrat-Garcia , J Valverde-Fernandez , JM Lucena , AL Gomez-Gila , A Garcia Rojas , MRJ Seppanen , J Lohi , M Hero , S Laakso , P Klemetti , V Lundberg , O Ekwall , P Olbrich , KK Winer , B Afzali , NM Moutsopoulos , SM Holland , T Heller , S Pittaluga , MS Lionakis

Brief Summary: This study suggests that excessive interferon-γ–mediated responses have a pathogenic role in APS-1 and provides the foundation for therapies that affect interferon-γ–mediated disease.Commentary: Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED), is an autosomal recessive multiorgan syndrome caused by loss-of-function variants in ...
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ey0021.8-14 | New Hope | ESPEYB21

8.14. Circulating non-coding RNA biomarkers of endocrine tumours

H Butz , A Patocs , P Igaz

Brief Summary: This review provides a comprehensive summary of the current research, pathophysiologic mechanisms and methodological factors regarding the utility of ncRNA as biomarkers for endocrine tumors.Comment: Clinical management of endocrine tumors has several challenges, including preoperative diagnosis regarding malignancy, monitoring of treatment and patient follow-up. The currently available biomarkers for endocrine tumors have important limita...
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ey0021.8-15 | New Hope | ESPEYB21

8.15. Metastatic pheochromocytoma and paraganglioma: somatostatin receptor 2 expression, genetics, and therapeutic responses

A Fischer , S Kloos , U Maccio , J Friemel , H Remde , M Fassnacht , C Pamporaki , G Eisenhofer , HJLM Timmers , M Robledo , SMJ Fliedner , K Wang , J Maurer , A Reul , K Zitzmann , N Bechmann , G Žygienė , S Richter , C Hantel , D Vetter , K Lehmann , H Mohr , NS Pellegata , M Ullrich , J Pietzsch , CG Ziegler , SR Bornstein , M Kroiss , M Reincke , K Pacak , AB Grossman , F Beuschlein , S Nolting

Brief Summary: This study explored the relationship between Somatostatin Receptor 2 (SSTR2) immunoreactivity and succinate dehydrogenase complex iron sulfur subunit B (SDHB) immunoreactivity, mutational status, and clinical behavior of paragangliomas (PPGLs), and evaluated SSTR-based therapies in metastatic PPGLs. The findings highlight SSTR2 expression as a novel biomarker for metastatic behavior in PCC, PGL and SDHB/ SDHx mutations. They also suggest that SSTR-based therapie...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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