ISSN 1662-4009 (online)

ey0018.8-5 | Important for Clinical Practice | ESPEYB18

8.5. Improved urinary cortisol metabolome in addison disease: A prospective trial of dual-release hydrocortisone

S Espiard , J McQueen , M Sherlock , O Ragnarsson , R Bergthorsdottir , P Burman , P Dahlqvist , B Ekman , BE Engstrom , S Skrtic , J Wahlberg , PM Stewart , G Johannsson

J Clin Endocrinol Metab 2021; 106(3):814–825.https://pubmed.ncbi.nlm.nih.gov/33236103/Here, the authors performed a randomized, 12-week, crossover study in order to assess cortisol metabolism during dual-release hydrocortisone (DR-HC) and conventional hydrocortisone (TID-HC) therapy in patients with primary adrenal insufficiency (n=50). Healthy controls (n=124) were i...

ey0018.8-14 | New Paradigms | ESPEYB18

8.14. DNA Methylation of steroidogenic enzymes in benign adrenocortical tumors: New insights in aldosterone-producing Adenomas

G Di Dalmazi , L Morandi , B Rubin , C Pilon , S Asioli , V Vicennati , A De Leo , F Ambrosi , D Santini , U Pagotto , V Maffeis , A Fassina , F Fallo

J Clin Endocrinol Metab. 2020 Dec 1;105(12): dgaa585.https://pubmed.ncbi.nlm.nih.gov/32844182/The aim of this histological study was to investigate DNA methylation and expression of genes encoding steroidogenic enzymes in benign adrenocortical tumors. The findings suggest that DNA methylation plays a regulatory role in CYP11B2 expression and may contribute to aldosterone hypersecretion in a...

ey0018.12-14 | Lipids | ESPEYB18

12.14. Effects of apolipoprotein B on the lifespan and risks of major disease including type 2 diabetes: a mendelian randomization analysis using outcomes in first-degree relatives

Richardson Tom G , Wang Qin , Sanderson Eleanor , Mahajan Anubha , McCarthy Mark I , Frayling Timothy M , Ala-Korpela Mika , Sniderman Allan , Smith George Davey , Holmes Michael V

Lancet Healthy Longevity 2021 10.1016/S2666-7568(21)00086-6.In brief: Using a multivariable Mendelian randomization approach, genetic data on lipoprotein lipid levels and disease outcomes indicated that higher Apolipoprotein B (ApoB) levels increase the risks of coronary heart disease, stroke and T2DM, and shorten longevity. ApoB is emerging as a more sensitive measure of disease r...

ey0018.13-4 | Diabetes | ESPEYB18

13.4. Heat-stability study of various insulin types in tropical temperature conditions: New insights towards improving diabetes care

B Kaufmann , P Boulle , F Berthou , M Fournier , D Beran , I Ciglenecki , M Townsend , G Schmidt , M Shah , S Cristofani , P Cavailler , M Foti , L Scapozza

PLoS ONE 2021;16: e0245372. doi: 10.1371/journal.pone.0245372– According to pharmacopeia, unopened insulin vials must be stored in a refrigerator (2–8 °C) while storage at ambient temperature (25–28 °C) is usually permitted for the 4-week usage period during treatment– The authors investigated whether insulin remains stable and retains biological activity...

ey0019.1-10 | Clinical Papers | ESPEYB19

1.10. Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil

EB Trarbach , G Trivellin , IPP Grande , FHG Duarte , AAL Jorge , FBP do Nascimento , HM Garmes , M Nery , BB Mendonca , CA Stratakis , MD Bronstein , RS Jallad

Pituitary. 2021;24(2):252-261. doi: 10.1007/s11102-020-01105-4. PMID: 33156432.Brief Summary: Pituitary gigantism is a rare disease, which can be syndromic, as in McCune-Albright syndrome, Carney complex, MEN1 and MEN4, and the newly described “three P association” (paraganglioma, pheochromocytoma and pituitary adenoma) (1), or non-syndromic caused by mutations ...

ey0019.2-18 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB19

2.18. Novel epigenetic link between gestational diabetes mellitus and macrosomia

BT Joyce , H Liu , L Wang , J Wang , Y Zheng , D Nannini , A Drong , S Shiau , W Li , J Leng , Y Shen , R Gao , A Baccarelli , G Hu , L Hou

Epigenomics. 2021 Aug;13(15):1221-1230. doi: 10.2217/epi-2021-0096. PMID: 34337972.Brief Summary: This case cohort study assessed whether epigenetic factors explain the link between gestational diabetes mellitus (GDM) and macrosomia. Epigenetic changes in the MEST gene were associated with both GDM and macrosomia.GDM leads to neonatal macrosomia and in the long-t...

ey0019.5-2 | Novel treatments for rare skeletal disorders | ESPEYB19

5.2. Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial

A Infante , B Gener , M Vazquez , N Olivares , A Arrieta , G Grau , I Llano , L Madero , AM Bueno , B Sagastizabal , D Gerovska , MJ Arauzo-Bravo , I Astigarraga , CI Rodriguez

Clin Transl Med. 2021 Jan;11(1):e265. Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/33463067/In brief: In order to explore safety, efficacy, and feasibility of repeated infusions of mesenchymal stem cells (MSCs) as a treatment for OI, two pediatric OI patients were treated with repeated infusions of HLA-matched MSCs. The patients tolerated the treatment well and ...

ey0019.5-15 | Advances in skeletal biology | ESPEYB19

5.15. Asymmetric activation of the calcium-sensing receptor homodimer

Y Gao , MJ Robertson , SN Rahman , AB Seven , C Zhang , JG Meyerowitz , O Panova , FM Hannan , RV Thakker , H Brauner-Osborne , JM Mathiesen , G Skiniotis

Nature. 2021 Jul;595(7867):455-459.Abstract: https://pubmed-ncbi-nlm-nih-gov/34194040/In brief: Using cryo-electron microscopy, the calcium-sensing receptor (CaSR) is visualized with different ligands demonstrating, in great detail, how calcimimetic drugs lock the CaSR homodimer in an assymetric configuration, exposing one of the two protomers for G-protein coupling, whereas calciolytic dru...

ey0019.6-9 | Basic and Genetic Research of DSD | ESPEYB19

6.9. Whole exome sequencing reveals copy number variants in individuals with disorders of sex development

R Sreenivasan , K Bell , den Bergen J van , G Robevska , D Belluoccio , R Dahiya , GM Leong , J Dulon , P Touraine , EJ Tucker , K Ayers , A Sinclair

Mol Cell Endocrinol. 2022 Apr 15;546:111570. PMID: 35051551, doi: 10.1016/j.mce.2022.111570. Brief Summary: This report emphasizes the importance of screening for copy number variants (CNVs) using parallel genomic techniques for diagnosing unsolved cases of complete androgen insensitivity syndrome (CAIS) as well as other DSDs, where traditional sequencing techniques fail to detect a genetic...

ey0019.7-4 | Clinical Guidance | ESPEYB19

7.4. The use of morning urinary gonadotropins and sex hormones in the management of early puberty in chinese girls

S Zhan , K Huang , W Wu , D Zhang , A Liu , RM Dorazio , J Shi , R Ullah , L Zhang , J Wang , G Dong , Y Ni , J Fu

J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4520-e4530. doi: 10.1210/clinem/dgab448. Erratum in: J Clin Endocrinol Metab. 2021 Nov 15;: PMID: 34160619https://academic.oup.com/jcem/article/106/11/e4520/6308284Brief Summary: This cross-sectional study of 355 girls with Central Precocious Puberty (CPP) evaluates t...