ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 9 of about 159 results

ey0015.7-11 | New genes in hypogonadotropic hypogonadism | ESPEYB15

7.11 KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

C Xu , A Messina , E Somm , H Miraoui , T Kinnunen , J Acierno , NJ Niederländer , J Bouilly , AA Dwyer , Y Sidis , D Cassatella , GP Sykiotis , R Quinton , C De Geyter , M Dirlewanger , V Schwitzgebel , TR Cole , AA Toogood , JM Kirk , L Plummer , U Albrecht , WF Crowley , M Mohammadi , M Tena-Sempere , V Prevot , N Pitteloud

To read the full abstract: EMBO Mol Med. 2017 Oct;9(10):1379-1397[Comments on 7.10 and 7.11] During embryonic development, GnRH neurons originate in the olfactory placode and migrate through the nasal mesenchyme using the olfactory/vomeronasal axons as a scaffold to reach their final destination in the basal forebrain1,2. Th...
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ey0015.12-4 | New Mechanism | ESPEYB15

12.4 Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

V Rusu , E Hoch , JM Mercader , DE Tenen , M Gymrek , CR Hartigan , M DeRan , M von Grotthuss , P Fontanillas , A Spooner , G Guzman , AA Deik , KA Pierce , C Dennis , CB Clish , SA Carr , BK Wagner , M Schenone , MCY Ng , BH Chen , M Consortium , STD Consortium , F Centeno-Cruz , C Zerrweck , L Orozco , DM Altshuler , SL Schreiber , JC Florez , SBR Jacobs , ES Lander

To read the full abstract: Cell 2017;170:199-212 e20T2DM has a disproportionate impact on persons of Latin American descent. GWAS in Mexican and other Latin American samples identified a haplotype containing four missense SNPs, all in SLC16A11, that were much more common in individuals with Native American ancestry than in east Asian, European and African samples. The association was stronge...
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ey0020.8-5 | Important for Clinical Practice | ESPEYB20

8.5. Impact of the COVID-19 pandemic on long-term trends in the prevalence of diabetic ketoacidosis at diagnosis of paediatric type 1 diabetes: an international multicentre study based on data from 13 national diabetes registries

NH Birkebaek , C Kamrath , JM Grimsmann , K Aakesson , V Cherubini , K Dovc , C de Beaufort , GT Alonso , JW Gregory , M White , T Skrivarhaug , Z Sumnik , C Jefferies , T Hortenhuber , A Haynes , M De Bock , J Svensson , JT Warner , O Gani , R Gesuita , R Schiaffini , R Hanas , A Rewers , AJ Eckert , RW Holl , O Cinek

Brief summary: This international multicentre study collected data from 104 290 children and adolescents (6 months-18 years-old), to compare prevalence of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes (T1D) before and during the COVID-19 pandemic. Prevalence of DKA at T1D diagnosis increased from 27.3% pre-pandemic to 39.4% during the pandemic, and the increased trends were associated with the pandemic containment measures.DKA is a life-thr...
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ey0020.9-4 | New Findings in Adipose Tissue | ESPEYB20

9.4. SUCNR1 signaling in adipocytes controls energy metabolism by modulating circadian clock and leptin expression

T Villanueva-Carmona , L Cedo , A Madeira , V Ceperuelo-Mallafre , M Rodriguez-Pena , C Nunez-Roa , E Maymo-Masip , M Repolles-de-Dalman , J Badia , N Keiran , M Mirasierra , C Pimenta-Lopes , J Sabadell-Basallote , R Bosch , L Caubet , JC Escola-Gil , JM Fernandez-Real , N Vilarrasa , F Verntura , M Vallejo , J Vendrell , S Fernandez-Veledo

Brief summary: Villanueva-Carmona et al. identified succinate as a mediating metabolite in leptin secretion. Its action is mediated by the succinate receptor SUCNR in adipocytes via the circadian clock in an AMPK/JNK-C/EBPa-dependent manner.Although the regulatory circuits of leptin action on hunger and satiety are well understood, the pathways that mediate acute leptin production in the adipose tissue are less investigated. To investigate how a...
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ey0020.9-6 | Advances in Understanding Central Weight Regulation and Behaviour | ESPEYB20

9.6. Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior

Y He , B Brouwers , H Liu , K Lawler , EM de Oliveira , DK Lee , Y Yang , AR Cox , JM Keogh , E Henning , R Bounds , A Perdikari , V Ayinampudi , C Wang , M Yu , L Tu , N Zhang , N Yin , J Han , NA Scarcelli , Z Yan , KM Conde , C Potts , JC Bean , M Wang , SM Hartig , L Liao , J Xu , I Barroso , J Mokrosinski , Y Xu , IS Farooqi

Brief summary: This collaborative study identified 13 monoallelic rare loss-of-function (LoF) variants in the serotonin 2C receptor (HTR2C) gene in 19 unrelated individuals with hyperphagia, severe early-onset obesity, and some degree of maladaptive behaviour. The authors used exome sequencing in 2548 individuals with severe obesity and 1117 control individuals without obesity. They found that HTR2C variants cause monogenic obesity by demonstrating t...
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ey0018.3-1 | Mechanism of the year | ESPEYB18

3.1. Radiation-related genomic profile of papillary thyroid carcinoma after the Chernobyl accident

LM Morton , DM Karyadi , C Stewart , TI Bogdanova , ET Dawson , MK Steinberg , J Dai , SW Hartley , SJ Schonfeld , JN Sampson , YE Maruvka , V Kapoor , DA Ramsden , J Carvajal-Garcia , CM Perou , JS Parker , M Krznaric , M Yeager , JF Boland , A Hutchinson , BD Hicks , CL Dagnall , JM Gastier-Foster , J Bowen , O Lee , MJ Machiela , EK Cahoon , AV Brenner , K Mabuchi , V Drozdovitch , S Masiuk , M Chepurny , LY Zurnadzhy , M Hatch , A Berrington de Gonzalez , GA Thomas , MD Tronko , G Getz , SJ Chanock

Science. 2021;372(6543):eabg2538. doi: 10.1126/science.abg2538.Radioactive iodine (131I)-exposed children in the region of Chernobyl (Ukraine) showed an increased incidence of papillary thyroid carcinoma (PTC) after the 1986 nuclear plant accident [1]. This so far the largest and most comprehensive study to characterize the genomic landscape of radiation induced PTC in a large n...
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ey0019.10-16 | Genetics | ESPEYB19

10.16. Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes

CC Robertson , JRJ Inshaw , S Onengut-Gumuscu , WM Chen , Cruz DF Santa , H Yang , AJ Cutler , DJM Crouch , E Farber , SL Jr Bridges , JC Edberg , RP Kimberly , JH Buckner , P Deloukas , J Divers , D Dabelea , JM Lawrence , S Marcovina , AS Shah , CJ Greenbaum , MA Atkinson , PK Gregersen , JR Oksenberg , F Pociot , MJ Rewers , AK Steck , DB; Type 1 Diabetes Genetics Consortium Dunger , LS Wicker , P Concannon , JA Todd , SS Rich

Nat Genet. 2021 Jul;53(7):962-971. https://pubmed.ncbi.nlm.nih.gov/34127860/Brief Summary: The authors report the largest and most diverse genome-wide association study (GWAS) of type 1 diabetes (T1D) to date, including 61,427 participants from different ancestries. It identified 78 significant genomic regions associated with T1D, of which 36 were new. The integration of genetic evidence, f...
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ey0017.4-1 | Important for clinical practice | ESPEYB17

4.1. Diagnosis, genetics, and therapy of short stature in children: A growth hormone research society international perspective

PF Collett-Solberg , G Ambler , PF Backeljauw , M Bidlingmaier , BMK Biller , MCS Boguszewski , PT Cheung , CSY Choong , LE Cohen , P Cohen , A Dauber , CL Deal , C Gong , Y Hasegawa , AR Hoffman , PL Hofman , R Horikawa , AAL Jorge , A Juul , P Kamenicky , V Khadilkar , JJ Kopchick , B Kristrom , MdLA Lopes , X Luo , BS Miller , M Misra , I Netchine , S Radovick , MB Ranke , AD Rogol , RG Rosenfeld , P Saenger , JM Wit , J Woelfle

To read the full abstract: Horm Res Paediatr. 2019;92:1–14In March 2019, 46 international experts from 14 countries across 5 continents attended a 3-day workshop organized by the Growth Hormone Research Society (GRS) and produced this perspective on the diagnosis, management and therapy in children with short stature. In this context, this expert panel tackled almost all aspects related to the management of children with short stature, prov...
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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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ey0020.5-8 | Clinical Guidance and Studies | ESPEYB20

5.8. GnRH replacement rescues cognition in Down syndrome

M Manfredi-Lozano , V Leysen , M Adamo , I Paiva , R Rovera , JM Pignat , FE Timzoura , M Candlish , S Eddarkaoui , SA Malone , MSB Silva , S Trova , M Imbernon , L Decoster , L Cotellessa , M Tena-Sempere , M Claret , A Paoloni-Giacobino , D Plassard , E Paccou , N Vionnet , J Acierno , AM Maceski , A Lutti , F Pfrieger , S Rasika , F Santoni , U Boehm , P Ciofi , L Buee , N Haddjeri , AL Boutillier , J Kuhle , A Messina , B Draganski , P Giacobini , N Pitteloud , V Prevot

Brief summary: This study identified a new role for GnRH in higher brain function using a rodent model of Down Syndrome. It reports for the first time an improvement of cognitive functions in patients with Down Syndrome treated with pulsatile GnRH.GnRH neurons are classically described as a population of neurons located in the hypothalamus and responsible for the activation and regulation of the hypothalamic-pituitary-gonadal axis. However, the recent de...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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