ISSN 1662-4009 (online)

ey0019.9-7 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.7. Fertility status among long-term childhood acute lymphoblastic leukaemia survivors enrolled between 1971 and 1998 in EORTC CLG studies: results of the 58 late adverse effects study

Rossi G. , Kicinski M. , Suciu S. , Vandecruys E. , Plat G. , Uyttebroeck A. , Paillard C. , Barbati M. , Dresse M.F. , Simon P. , Minckes O. , Pluchart C. , Ferster A. , Freycon C. , Millot F. , van der Werfften Bosch J. , Chantrain C. , Paulus R. , de Rojas T. , de Schaetzen G. , Rohrlich P. , Benoit Y. , Piette C.

On behalf of the European Organisation for Research and Treatment of Cancer (EORTC) Children’s Leukemia Group (CLG)caroline.piette@chuliege.be Human Reproduction, 2022; 37: 44–53. PMID: 34788455.Brief Summary: This case-control study evaluated fertility status in childhood acute lymphoblastic leukaemia (ALL) survivors enrolled in the European Organisation for Research and Treatment of Ca...

ey0020.7-5 | Gonadal Function and Fertility Issues in Childhood Cancer Survivors | ESPEYB20

7.5. Ovarian function and spontaneous pregnancy after hematopoietic stem cell transplantation for leukemia before puberty: An L.E.A. cohort study

M Chabut , P Schneider , B Courbiere , P Saultier , Y Bertrand , MD Tabone , C Pochon , S Ducassou , C Paillard , V Gandemer , J Kanold , JH Dalle , M Poiree , G Plat , S Thouvenin , D Plantaz , N Sirvent , S Weinhard , J Berbis , A Baruchel , G Leverger , Z Hamidou , P Auquier , G Michel

Brief summary: This French retrospective observational study evaluated ovarian function, premature ovarian insufficiency (POI) and spontaneous pregnancy in 178 women who had undergone hematopoietic stem cell transplantation (HSCT) for leukemia before puberty; 116/178 had received total body irradiation (TBI) and 62 had received a busulfan-based conditioning regimen.Sixty percent of women needed pubertal induction; only 40% had spontaneous menarche and ha...

ey0018.2-9 | Neonatal diabetes mellitus | ESPEYB18

2.9. Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

R Bonfanti , D Iafusco , I Rabbone , G Diedenhofen , C Bizzarri , PI Patera , P Reinstadler , F Costantino , V Calcaterra , L Iughetti , S Savastio , A Favia , F Cardella , D Lo Presti , Y Girtler , S Rabbiosi , G D'Annunzio , A Zanfardino , A Piscopo , F Casaburo , L Pintomalli , L Russo , V Grasso , N Minuto , M Mucciolo , A Novelli , A Marucci , B Piccini , S Toni , F Silvestri , P Carrera , A Rigamonti , G Frontino , M Trada , D Tinti , M Delvecchio , N Rapini , R Schiaffini , C Mammi , F Barbetti

Eur J Endocrinol. 2021 Apr;184(4):575–585. doi: 10.1530/EJE-20-1030. PMID: 33606663.These authors examined the likelihood of remission of diabetes without pharmacological therapy in a retrospective analysis of 34 Italian patients with Transient neonatal diabetes (TNDM).TNDM is a type of neonatal diabetes that remits within the first a few months of life. It is most ...

ey0021.13-9 | Endocrinology | ESPEYB21

13.9. 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

Z Siklar , E Camtosun , S Bolu , M Yildiz , A Akinci , F Bas , İ Dundar , A Bestas , E Unal , P Kocaay , T Guran , G Buyukyilmaz , AK Ugurlu , BG Tosun , I Turan , E Kurnaz , B Yuksel , D Turkkahraman , A Cayir , G Celmeli , EN Gonc , BS Eklioğlu , S Cetinkaya , SK Yilmaz , ME Atabek , M Buyukinan , E Arslan , E Mengen , EDP Cakir , M Karaoglan , N Hatipoglu , Z Orbak , A Ucar , N Akyurek , ED Akbas , E Isik , SB Kaygusuz , ZK Sutcu , G Seymen , M Berberoglu

Brief Summary: This retrospective cohort study analyzed data from 97 cases of 17α hydroxylase/17,20 lyase deficiency identified in Turkey. It focused on diagnostic testing, laboratory characteristics, long-term outcomes and therapeutic management.This nationwide study focuses on 17α-Hydroxylase/17,20-Lyase deficiency (17OHD), a rare form of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene. The research aims to evalua...

ey0018.2-7 | Neonatal hypoglycaemia | ESPEYB18

2.7. Possible new strategies for the treatment of congenital hyperinsulinism

J Sikimic , T Hoffmeister , A Gresch , J Kaiser , W Barthlen , C Wolke , I Wieland , U Lendeckel , P Krippeit-Drews , M Dufer , G Drews

Front Endocrinol (Lausanne). 2020 Oct 27;11:545638. doi: 10.3389/fendo.2020.545638. PMID: 33193079.Using human islets from CHI patients and islets from ABCC8 (SUR1) knockout mice, the authors tested several novel compounds to inhibit insulin over-secretion. These novel compounds targeted KATP channels as well as KATP indepe...

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...

ey0019.2-18 | 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 ...