ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 7 results

ey0015.10-2 | Aetiology and heterogeneity of type 1 diabetes | ESPEYB15

10.2 Higher parental occupational social contact is associated with a reduced risk of incident pediatric T1DM: mediation through molecular enteroviral indices

AL Ponsonby , A Pezic , FJ Cameron , C Rodda , AS Kemp , JB Carlin , H Hyoty , A Sioofy-Khojine , T Dwyer , JA Ellis , ME Craig

To read the full abstract: PLoS One. 2018;13:e0193992Enterovirus infections in children are associated with an almost 10-fold higher risk of T1DM. In these families in parents and siblings enterovirus can frequently be detected by PCR. However, the role of enteroviral infections in the pathogenesis of T1DM is complex. Although enterovirus infections are less prevalent T1DM incidence increa...
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ey0018.7-6 | Clinical Guidance | ESPEYB18

7.6. GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty

H Mosbah , C Bouvattier , L Maione , S Trabado , G De Filippo , A Cartes , A Donzeau , P Chanson , S Brailly-Tabard , AA Dwyer , R Coutant , J Young

Hum Reprod. 2020 Oct 1;35(10):2312–2322. 10.1093/humrep/deaa185. PMID: 32862222. https://academic.oup.com/humrep/article/35/10/2312/5899242In brief: This study shows that both the GnRH stimulation test and serum inhibin B have insufficient specificity to discriminate congenital hypogonadotropic hypogonadism (CHH) from c...
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ey0019.14-10 | Risk and Outcome | ESPEYB19

14.10. Childhood cardiovascular risk factors and adult cardiovascular events

DR Jr Jacobs , JG Woo , AR Sinaiko , SR Daniels , J Ikonen , M Juonala , N Kartiosuo , T Lehtimaki , CG Magnussen , JSA Viikari , N Zhang , LA Bazzano , TL Burns , RJ Prineas , J Steinberger , EM Urbina , AJ Venn , OT Raitakari , T Dwyer

N Engl J Med. 2022 May 19;386(20):1877–1888. doi: 10.1056/NEJMoa2109191.Brief summary: This prospective cohort study leveraged data from the International Childhood Cardiovascular Cohorts (i3C) Consortium, including 42 324 participants at baseline and followed-up over a mean of 35 years, in order to investigate associations between cardiovascular risk factors (CVRF, including body-mass ind...
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ey0017.7-11 | Basic Science | ESPEYB17

7.11. Neuron-derived neurotrophic factor is mutated in congenital hypogonadotropic hypogonadism

A Messina , K Pulli , S Santini , J Acierno , J Kansakoski , D Cassatella , C Xu , F Casoni , SA Malone , G Ternier , D Conte , Y Sidis , J Tommiska , K Vaaralahti , A Dwyer , Y Gothilf , GR Merlo , F Santoni , NJ Niederlander , P Giacobini , T Raivio , N Pitteloud

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...
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ey0015.7-10 | New genes in hypogonadotropic hypogonadism | ESPEYB15

7.10 DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

J Bouilly , A Messina , G Papadakis , D Cassatella , C Xu , JS Acierno , B Tata , G Sykiotis , S Santini , Y Sidis , E Elowe-Gruau , F Phan-Hug , M Hauschild , PM Bouloux , R Quinton , M Lang-Muritano , L Favre , L Marino , P Giacobini , AA Dwyer , NJ Niederländer , N Pitteloud

To read the full abstract: Hum Mol Genet. 2018 Jan 15;27(2):359-372See comment on 7.11...
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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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ey0015.7-8 | 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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