ISSN 1662-4009 (online)

ey0019.3-7 | Congenital hypothyroidism | ESPEYB19

3.7. Treatment of congenital hypothyroidism: comparison between L-thyroxine oral solution and tablet formulations up to 3 years of age

MC Vigone , R Ortolano , G Vincenzi , C Pozzi , M Ratti , V Assirelli , S Vissani , P Cavarzere , A Mussa , R Gastaldi , Mase R Di , M Salerno , ME Street , J Trombatore , G Weber , A Cassio

Eur J Endocrinol. 2021 Nov 30;186(1):45-52. doi: 10.1530/EJE-20-1444. PMID: 34714772Brief Summary: This retrospective multicenter study examined the biochemical and neurocognitive outcomes of n=254 patients with congenital hypothyroidism (CH) at age 3 years, treated with either LT4 drops (n=117) or LT4 tablets (n=137). Overall, neurocognitive outcome was not different between the two treatment gr...

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. ...

ey0019.11-5 | New findings in adipose tissue biology | ESPEYB19

11.5. Insulin directly regulates the circadian clock in adipose tissue

N Tuvia , O Pivovarova-Ramich , V Murahovschi , S Luck , A Grudziecki , AC Ost , M Kruse , VJ Nikiforova , M Osterhoff , P Gottmann , O Gogebakan , C Sticht , N Gretz , M Schupp , A Schurmann , N Rudovich , AFH Pfeiffer , A Kramer

achim.kramer@charite.de Diabetes 2021;70:1985–1999http://www.ncbi.nlm.nih.gov/pubmed/34226282Brief Summary: This study analyzed gene expression in subcutaneous adipose tissue samples of adults with obesity collected before and after the hyperinsulinemic–euglycemic clamp or control saline infusion. They demonstrate that insulin regulat...

ey0019.12-4 | New data on complications of children with T2DM | ESPEYB19

12.4. Insulinopathies of the brain? Genetic overlap between somatic insulin-related and neuropsychiatric disorders

J. Fanelli G, Franke B, De Witte W, Ruisch IH, Haavik J, van Gils V, Jansen WJ, Vos SJB, Lind L, Buitelaar JK, Banaschewski T, Dalsgaard S, Serretti A, Mota NR, Poelmans G, Bralten

Translational psychiatry 2022;12(1):59. doi: 10.1038/s41398-022-01817-0Brief Summary: This population genetics study explored pairwise genome-wide genetic correlations between neuropsychiatric disorders with insulin-related somatic diseases and traits. There were likely protective effects of obsessive-compulsive disorder and anorexia nervosa on the risks of having MetS, obesity and T2DM; i...

ey0019.14-14 | New treatments | ESPEYB19

14.14. A novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-linked hypophosphatemia

Zhukouskaya Volha V , Jauze Louisa , Charles Severine , Leborgne Christian , Hilliquin Stephane , Sadoine Jeremy , Slimani Lotfi , Baroukh Brigitte , van Wittenberghe Laetitia , Daniele Natalie , Rajas Fabienne , Linglart Agnes , Mingozzi Federico , Chaussain Catherine , Bardet Claire , Ronzitti Giuseppe

Science Advances, 2021,7:eabj5018 doi: 10.1126/sciadv.abj5018Brief Summary: The authors developed a liver-targeting adeno-associated virus (AAV) vector carrying C-terminal FGF23 (cFGF23) to inhibit FGF23 signalling in a mouse model for X-linked hypophosphataemic rickets (hyp-duk mice). They were able to show that a single injection of AAV cFGF23 rescued the hyp-duk phenotype.<p class="abst...

ey0017.8-5 | Important for Clinical Practice | ESPEYB17

8.5. Exposure to glucocorticoids in the first part of fetal life is associated with insulin secretory defect in adult humans

JP Riveline , B Baz , JL Nguewa , T Vidal-Trecan , F Ibrahim , P Boudou , E Vicaut , A Brac de la Perriere , S Fetita , B Breant , B Blondeau , V Tardy-Guidollet , Y Morel , JF Gautier

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgz145. PMID: 31665349.Prenatal treatment with glucocorticoids (GC) is used in several clinical indications. However, the long-term outcome on offspring metabolic, somatic and cognitive health has raised significant concern. In rodents, high glucocorticoid levels inhibit development of beta cells during fetal life and lead to...

ey0016.7-2 | Basic Science | ESPEYB16

7.2. SIRT1 mediates obesity- and nutrient-dependent perturbation of pubertal timing by epigenetically controlling Kiss1 expression

MJ Vazquez , CA Toro , JM Castellano , F Ruiz-Pino , J Roa , D Beiroa , V Heras , I Velasco , C Dieguez , L Pinilla , F Gaytan , R Nogueiras , MA Bosch , OK Ronnekleiv , A Lomniczi , SR Ojeda , M Tena-Sempere

To read the full abstract: Nat Commun. 2018 Oct 10;9(1):4194.This study identifies Sirtuin 1 (SIRT1), a fuel-sensing deacetylase, as a molecule that restrains female puberty via epigenetic repression of the puberty-activating gene, Kiss1 in rats.The last few years have brought evidence regarding the epigenetic control of the onset of puberty. It is now cle...

ey0016.11-1 | New Insights into Body Weight Regulation | ESPEYB16

11.1. Genetic architecture of human thinness compared to severe obesity

F Riveros-McKay , V Mistry , R Bounds , A Hendricks , JM Keogh , H Thomas , E Henning , LJ Corbin , Understanding Society Scientific Group , S O'Rahilly , E Zeggini , E Wheeler , I Barroso , IS Farooqi

To read the full abstract: PLoS Genet. 2019; 15(1):e1007603.This genome wide association study reveals new insights into the genetic basis of thinness by investigating a large cohort of healthy persistently thin individuals. In the past, it has been speculated that inheritance of thinness may constitute a protective factor against environmental factors disposing to obesity (1). Neverthel...

ey0016.11-6 | Tracking, Programming, and Epigenetics | ESPEYB16

11.6. Adipose tissue mitochondrial dysfunction in human obesity is linked to a specific DNA methylation signature in adipose-derived stem cells

M Ejarque , V Ceperuelo-Mallafre , C Serena , E Maymo-Masip , X Duran , A Diaz-Ramos , M Millan-Scheiding , Y Nunez-Alvarez , C Nunez-Roa , P Gama , PM Garcia-Roves , MA Peinado , JM Gimble , A Zorzano , J Vendrell , S Fernandez-Veledo

To read the full abstract: Int J Obes (Lond). 2019;43(6):1256–1268This epigenome-wide association study in stromal/stem cells (ASCs), derived from subcutaneous adipose tissue samples of lean and obese subjects, revealed a specific DNA methylation signature in adipocyte precursors associated with obesity, which has a significant impact on the metabolic phenotype and the mitochondrial...

ey0016.12-13 | Lipid Metabolism | ESPEYB16

12.13. Marine n-3 fatty acids and prevention of cardiovascular disease and cancer

JE Manson , NR Cook , IM Lee , W Christen , SS Bassuk , S Mora , H Gibson , CM Albert , D Gordon , T Copeland , D D'Agostino , G Friedenberg , C Ridge , V Bubes , EL Giovannucci , WC Willett , JE Buring , VITAL Research Group Buring

To read the full abstract: N Engl J Med 2019;380:23-32.Summary: In this randomized primary prevention placebo-controlled trial of 25,871 US adults, with a two-by-two factorial design, supplements with omega-3 did not lower the overall incidence of adverse cardiovascular events or cancer compared to a placebo.Comment: Omega-3 fatty acids are polyun...