ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 6 results

ey0015.3 | (1) | ESPEYB15

3. Thyroid

A Stoupa , G Szinnai

A selection of papers with high impact challenging current knowledge and practice in pediatric thyroidology were published during the last year. On the molecular level, the proof of intracellular compartmentalization of the TSH/TSHR signaling cascade changes our view on TSH/TSHR signaling adding an new level of regulation. On the hormonal level, the fact that thyroid hormones regulate cardiac function and metabolic activity mainly by a noncanonical thyroid hormone receptor ind...
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ey0017.15-8 | (1) | ESPEYB17

15.8. Arginine-stimulated copeptin measurements in the differential diagnosis of diabetes insipidus: A prospective diagnostic study

B Winzeler , N Cesana-Nigro , J Refardt , DR Vogt , C Imber , B Morin , M Popovic , M Steinmetz , CO Sailer , G Szinnai , I Chifu , M Fassnacht , M Christ-Crain

To read the full abstract: Lancet. 2019 Aug 17;394(10198):587–595. doi: 10.1016/S0140-6736(19)31255-3.These authors previously described that the measurement of copeptin, a peptide cleaved in the posterior pituitary from the protein precursor of vasopressin and stable in circulation, is an accurate tool to diagnose diabetes insipidus (DI; vasopressin insufficiency). However, the...
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ey0019.9-12 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.12. Pregnancy and pregnancy outcomes after hematopoietic stem cell transplantation in childhood: a cross-sectional survey of the EBMT pediatric diseases working party

T Diesch-Furlanetto , A Rovo , JE Galimard , G Szinnai , A Dalissier , P Sedlacek , I Bodova , VK Roussou , BE Gibson , X Poire , F Fagioli , H Pichler , M Faraci , FG Gumy-Pause , JH Dalle , A Balduzzi , P Bader , S Corbacioglu

tamara.diesch@ukbb.ch.Hum Reprod. 2021; 36: 2871-82. PMID: 34529796.Brief Summary: This retrospective study of the European Society for Blood and Marrow Transplantation (EBMT) registry describes the natural or assisted conceptions and their outcomes in patients <18-year-old at their first transplantation who received hematopoietic stem cell transplantation (HSCT) between 1995 and 2016. <p class=...
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ey0018.3-8 | Congenital hypothyroidism | ESPEYB18

3.8. Congenital hypothyroidism: A 2020-2021 consensus guidelines update-An ENDO-European Reference Network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

P van Trotsenburg , A Stoupa , J Leger , T Rohrer , C Peters , L Fugazzola , A Cassio , C Heinrichs , V Beauloye , J Pohlenz , P Rodien , R Coutant , G Szinnai , P Murray , B Bartes , D Luton , M Salerno , L de Sanctis , M Vigone , H Krude , L Persani , M Polak

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...
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ey0016.3-12 | New Genes | ESPEYB16

3.12. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

A Stoupa , F Adam , D Kariyawasam , C Strassel , S Gawade , G Szinnai , A Kauskot , D Lasne , C Janke , K Natarajan , A Schmitt , C Bole-Feysot , P Nitschke , J Leger , F Jabot-Hanin , F Tores , A Michel , A Munnich , C Besmond , R Scharfmann , F Lanza , D Borgel , M Poalk , A Carre

To read the full abstract: EMBO Mol Med 2018;e9569:1–18TUBB1 encodes a member of the beta-tubulin protein family. Beta-tubulins and alpha-tubulins form dimers, which assemble into microtubules belonging to the intracellular cytoskeleton structure.The authors identified three different mutations in TUBB1 by whole exome sequencing in a large co...
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ey0015.7-8 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.8 Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

D Cassatella , SR Howard , JS Acierno , C Xu , GE Papadakis , FA Santoni , AA Dwyer , S Santini , GP Sykiotis , C Chambion , J Meylan , L Marino , L Favre , J Li , X Liu , J Zhang , PM Bouloux , C Geyter , A Paepe , WS Dhillo , JM Ferrara , M Hauschild , M Lang-Muritano , JR Lemke , C Flück , A Nemeth , F Phan-Hug , D Pignatelli , V Popovic , S Pekic , R Quinton , G Szinnai , D l'Allemand , D Konrad , S Sharif , ÖT Iyidir , BJ Stevenson , H Yang , L Dunkel , N Pitteloud

To read the full abstract: Eur J Endocrinol. 2018 Apr;178(4):377-388[Comments on 7.7 and 7.8] Familial self-limited delayed puberty is highly heritable and has a clear genetic basis as described in the review written by Sasha Howard. Recent studies suggest that the genetic basis of self-limited delayed puberty is likely to be highly heteroge...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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