ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 23 of about 346 results

ey0018.6-4 | Basic and Genetic Research of DSD | ESPEYB18

6.4. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

H Mandel , N Cohen Kfir , A Fedida , E Shuster Biton , M Odeh , L Kalfon , S Ben- Harouch , V Fleischer Sheffer , Y Hoffman , Y Goldberg , A Dinwiddie , E Dumin , A Eran , L Apel-Sarid , D Tiosano , TC Falik-Zaccai

Clin Genet. 2020 Oct;98(4):402–407. 10.1111/cge.13816. PMID: 32683677.This short report describes two 46,XY siblings of consanguineous parents manifesting a complex syndrome consisting of multiple dysmorphic features including growth and developmental retardation, gastrointestinal disorders, musculoskeletal and cardiac anomalies, as well as ambiguous genitalia (non-palpable testes, micropenis, und...
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ey0018.9-13 | Cardiometabolic risk in chronic disease | ESPEYB18

9.13. Biomarkers of cardiometabolic complications in survivors of childhood acute lymphoblastic leukemia

S Morel , P Leveille , M Samoilenko , A Franco , J England , N Malaquin , V Tu , GB Cardin , S Drouin , F Rodier , S Lippe , M Krajinovic , C Laverdiere , D Sinnett , G Lefebvre , E Levy , V Marcil

Sci Rep. 2020 Dec 9; 10: 21507. https://pubmed.ncbi.nlm.nih.gov/33299020/This cross-sectional study of 246 childhood acute lymphoblastic leukemia (cALL) survivors aimed to analyze the relationships between various blood biomarkers and cardiovascular risk, and to test the link between endotoxemia and cardiometabolic complications. A high leptin-adiponectin ratio was associated with obesity, ...
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ey0018.11-3 | New hope: Increased diagnostic yield for disease causing MC4R variants and pharmacological treatment options | ESPEYB18

11.3. Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation

B Brouwers , EM de Oliveira , M Marti-Solano , FBF Monteiro , SA Laurin , JM Keogh , E Henning , R Bounds , CA Daly , S Houston , V Ayinampudi , N Wasiluk , D Clarke , B Plouffe , M Bouvier , MM Babu , IS Farooqi , J Mokrosiński

J Cell Rep. 2021 Mar 23;34(12):108862. 10.1016/j.celrep.2021.108862. https://pubmed.ncbi.nlm.nih.gov/33761344/This study demonstrates that MC4R variants found in humans affect receptor endocytosis, trafficking and dimerization and thus reveal multiple cellular mechanisms involved in weight regulation. The findings contributes to our und...
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ey0018.12-12 | Metabolic Syndrome | ESPEYB18

12.12. Effect of a high protein/low glycaemic index diet on insulin resistance in adolescents with overweight/obesity - a preview randomized clinical trial

E Dorenbos , M Drummen , T Adam , J Rijks , B Winkens , JA Martinez , S Navas-Carretero , G Stratton , N Swindell , P Stouthart , K Mackintosh , M Mcnarry , A Tremblay , M Fogelholm , A Raben , M Westerterp-Plantenga , A Vreugdenhil

Pediatr Obes. 2021 Jan;16(1):e12702. doi: 10.1111/ijpo.12702. PMID: 32681547.In brief: This randomized parallel trial, conducted in the Netherlands, the United Kingdom and Spain, assessed the impact of a high protein/low glycaemic diet vs. medium protein/medium glycaemic diet in reducing insulin resistance in 126 adolescents with overweight/obesity (mean age 13.6±2.2 years). At 2 ...
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ey0018.13-11 | Endocrinology | ESPEYB18

13.11. Clinical characteristics of 46,XX males with congenital adrenal hyperplasia

S Savaş-Erdeve , Z Aycan , S Cetinkaya , AP Ozturk , F Bas , S Poyrazoglu , F Darendeliler , E Ozsu , Z Sıklar , M Demiral , E Unal , M Nuri Ozbek , F Gurbuz , B Yuksel , O Evliyaoglu , N Akyurek , M Berberoglu

J Clin Res Pediatr Endocrinol 2020 Dec 30.doi: 10.4274/jcrpe.galenos.2020.2020.0216– The characteristics of 44 patients with 46,XX congenital adrenal hyperplasia (CAH) who were raised as males were described– 15/44 (34%) were diagnosed before 2 years of age– The median final height was 149.2 (range 133–172) cmThis paper discusses an important ...
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ey0018.14-8 | (1) | ESPEYB18

14.8. Mesenchyme-derived IGF2 is a major paracrine regulator of pancreatic growth and function

Hammerle Constanze M , Sandovici Ionel , Brierley Gemma V , Smith Nicola M , Zimmer Warren E , Zvetkova Ilona , Prosser Haydn M , Sekita Yoichi , Lam Brian YH , Ma Marcella , Cooper Wendy N , Vidal-Puig Antonio , Ozanne Susan E , Medina-Gomez Gema , Constancia Miguel

PLoS Genet. 2020; 16(10): e1009069. doi: https://doi.org/10.1371/journal.pgen.1009069The authors used mouse conditional gene knock-out models to investigate the role of Insulin-like growth factor-2 (Igf2) in pancreatic growth and function. When Igf2 was deleted specifically in mesenchyme-derived cells (but not when deleted in exocrine and endocrine cells), the entire pancreas was smal...
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ey0018.15-8 | (1) | ESPEYB18

15.8. Anti-Mullerian hormone levels and risk of type 2 diabetes in women

Verdiesen Renee MG , Onland-Moret N Charlotte , van Gils Carla H , Stellato Rebecca K , Spijkerman Annemieke MW , Picavet H Susan J , Broekmans Frank JM , Verschuren WM Monique , van der Schouw Yvonne T

Diabetologia, 2021; 64, 375–384.https://link.springer.com/article/10.1007/s00125-020-05302-5#Abs1The authors measured plasma anti-Müllerian hormone (AMH) levels over 2x 5-year intervals in a prospective cohort study of 3293 healthy women aged 20–59 years at baseline. Lower baseline age-specific AMH levels were associated with a higher risk of Type 2 di...
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ey0019.3-6 | Congenital hypothyroidism | ESPEYB19

3.6. Cognitive and white matter microstructure development in congenital hypothyroidism and familial thyroid disorders

K Perri , Mori L De , D Tortora , MG Calevo , AEM Allegri , F Napoli , G Patti , D Fava , M Crocco , M Schiavone , E Casalini , M Severino , A Rossi , Iorgi N Di , R Gastaldi , M Maghnie

J Clin Endocrinol Metab. 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. PMID: 34105732Brief Summary: This observational monocenter study analyzed cognitive scores of children with permanent (n=28, with athyreosis, ectopy or hypoplasia) vs. transient (n=11, with thyroid gland in situ) congenital hypothyroidism (CH) compared to healthy children (‘controls&#1...
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ey0019.3-14 | Paediatric thyroid cancer | ESPEYB19

3.14. Fusion oncogenes are associated with increased metastatic capacity and persistent disease in pediatric thyroid cancers

AT Franco , JC Ricarte-Filho , A Isaza , Z Jones , N Jain , S Mostoufi-Moab , L Surrey , TW Laetsch , MM Li , JC DeHart , E Reichenberger , D Taylor , K Kazahaya , NS Adzick , AJ Bauer

J Clin Oncol. 2022 Apr 1;40(10):1081-1090. doi: 10.1200/JCO.21.01861. Epub 2022 Jan 11. PMID: 35015563Brief Summary: This retrospective monocenter study of clinical, pathological and molecular analysis of n=113 children with differentiated thyroid cancer (DTC) showed that genetic analysis of DTC provided more accurate information on prognosis and outcome than classical histological categorizatio...
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ey0019.9-11 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.11. Assessment of the architecture and integrity of frozen-thawed testicular tissue from (pre)pubertal boys with cancer

Rives-Feraille A. , Liard A. , Bubenheim M. , Barbotin A.L. , Giscard d'Estaing S. , Mirallie S. , Ancelle A. , Roux C. , Brugnon F. , Greze V. , Daudin M. , Willson-Plat G. , Dubois R. , Sibert L. , Schneider P. , Rives N.

nathalie.rives@chu-rouen.fr Andrology. 2022; 10: 279–290. PMID: 34628730.Brief Summary: This multicentric prospective study performed an accurate evaluation of testicular tissue after frozen-thawing to investigate if this testicular tissue freezing (TTF) alters testicular architecture and integrity in pre-pubertal and pubertal boys with cancer. Promising histological outcomes were found. ...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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