ISSN 1662-4009 (online)

ey0018.8-1 | Mechanism of the year: neuropeptide substance P regulates aldosterone secretion | ESPEYB18

8.1. The neuropeptide substance P regulates aldosterone secretion in human adrenals

J Wils , C Duparc , AF Cailleux , AG Lopez , C Guiheneuf , I Boutelet , HG Boyer , C Dubessy , S Cherifi , B Cauliez , F Gobet , G Defortescu , JF Menard , E Louiset , H Lefebvre

Nat Commun. 2020;11(1): 2673.https://pubmed.ncbi.nlm.nih.gov/32471973/The authors conducted an experimental study in male human volunteers to examine the effects of a neurokinin type 1 receptor (NK1R) antagonist on aldosterone secretion. The findings show the presence of Substance P (SP)-positive nerve fibres in the human adrenal cortex in the vicinity of aldosterone-producing cells and wit...

ey0018.10-8 | (1) | ESPEYB18

10.8. Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should Lead to testing for MODY: lessons from a 5-year pediatric Swedish National Cohort study

A Carlsson , M Shepherd , S Ellard , M Weedon , A Lernmark , G Forsander , K Colclough , Q Brahimi , C Valtonen-Andre , SA Ivarsson , H Elding Larsson , U Samuelsson , E Ortqvist , L Groop , J Ludvigsson , C Marcus , AT Hattersley

Diabetes Care. 2020; 43:82–89. doi: 10.2337/dc19-0747.It is often difficult to identify maturity-onset diabetes of the young (MODY) in pediatric patients close to diabetes onset. Hence, misdiagnosis and unnecessary insulin treatment are still common.This study reports the discriminatory clinical features at diabetes onset in Swedish pediatric patients (age 1–18 y...

ey0018.11-2 | New hope: Increased diagnostic yield for disease causing MC4R variants and pharmacological treatment options | ESPEYB18

11.2. Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signalling

H Israeli , O Degtjarik , F Fierro , V Chunilal , AK Gill , NJ Roth , J Botta , V Prabahar , Y Peleg , LF Chan , D Ben-Zvi , PJ McCormick , Y Niv , M Shalev-Benami

Science 2021;372(6544): 808–814 doi: https://doi.org/10.1126/science.abf7958Isreali et al. describe the molecular structure of the melanocortin 4 receptor (MC4R) complexed with its effector G protein (Gs alpha) and setmelanotide, a pharmacological agonist of MC4R.MC4R is a known key element in body weight regulation, connecting response to leptin with inhibition o...

ey0019.9-8 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.8. Temporal changes in the probability of live birth among female survivors of childhood cancer: a population-based adult life after childhood cancer in Scandinavia (ALiCCS) study in five Nordic countries

de Fine Licht S. , Rugbjerg K. , Andersen E.W. , Nielsen T.T. , Nyboe Norsker F. , Kenborg L. , Holmqvist A.S. , Madanat-Harjuoja L.M. , Tryggvadottir L. , Stovall M. , Wesenberg F. , Hjorth L. , Hasle H. , Winther J.F.

Adult Life After Childhood Cancer in Scandinavia Study Groupkenborg@cancer.dk Cancer 2021; 127: 3881-3892. PMID: 34297360.Brief Summary: This register-based cohort study analysed the likelihood of live birth among female childhood cancer survivors (CCSs) diagnosed in between 1943 and 2006, in comparison with the general population. The prevalence of first live birth was lower in CCSs compared to matched con...

ey0019.9-12 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.12. Pregnancy and pregnancy outcomes after hematopoietic stem cell transplantation in childhood: a cross-sectional survey of the EBMT pediatric diseases working party

T Diesch-Furlanetto , A Rovo , JE Galimard , G Szinnai , A Dalissier , P Sedlacek , I Bodova , VK Roussou , BE Gibson , X Poire , F Fagioli , H Pichler , M Faraci , FG Gumy-Pause , JH Dalle , A Balduzzi , P Bader , S Corbacioglu

tamara.diesch@ukbb.ch.Hum Reprod. 2021; 36: 2871-82. PMID: 34529796.Brief Summary: This retrospective study of the European Society for Blood and Marrow Transplantation (EBMT) registry describes the natural or assisted conceptions and their outcomes in patients <18-year-old at their first transplantation who received hematopoietic stem cell transplantation (HSCT) between 1995 and 2016. <p class=...

ey0019.9-16 | Bone health in chronic disease | ESPEYB19

9.16. Skeletal adverse events in childhood cancer survivors: An adult life after childhood cancer in Scandinavia cohort study

T Oskarsson , AK Duun-Henriksen , A Bautz , S Montgomery , A Harila-Saari , C Petersen , R Niinimaki , L Madanat-Harjuoja , L Tryggvadottir , AS Holmqvist , H Hasle , M Heyman , JF Winther , ALiCCS study group

trausti.oskarsson@ki.se Int J Cancer. 2021; 149: 1863-1876. PMID: 34278568.Brief Summary: This population-based study retrospectively compared hospital admissions for skeletal issues in a group of 26,334 cancer survivors (CCS) diagnosed before 20 years of age and 127,531 matched controls. 1,987 CCS vs 8,986 controls had at least one skeletal adverse event. Total hospitalization rate ratio (RR) for ske...

ey0019.14-6 | Steroidogenesis and beyond | ESPEYB19

14.6. Altered steroidome in women with gestational diabetes mellitus: Focus on neuroactive and immunomodulatory steroids from the 24th week of pregnancy to labor

L Ond�ejikova , A Pa�izek , P Šimjak , D Vejražkova , M Velikova , K Anderlova , M Vosatkova , H Krejči , M Koucky , R Kancheva , M Duškova , M Vaňkova , J Blunt , M Hill

Biomolecules 2021;11:1746 doi: 10.3390/biom11121746Brief summary: Comprehensive steroid profiling of pregnant women with and without gestational diabetes mellitus (GDM) during late gestation revealed specific GDM-related steroidomic changes, linking the maternal compartment to GDM pathophysiology and highlighting the interaction between GDM and the stage of gestation.It is...

ey0017.2-10 | Neonatal Diabetes Mellitus | ESPEYB17

2.10. The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the State of Qatar

S Al-Khawaga , I Mohammed , S Saraswathi , B Haris , R Hasnah , A Saeed , H Almabrazi , N Syed , P Jithesh , A El Awwa , A Khalifa , F AlKhalaf , G Petrovski , EM Abdelalim , K Hussain

To read the full abstract: Mol Genet Genomic Med., 2019 Oct;7(10):e00753. doi: 10.1002/mgg3.753. Epub 2019 Aug 23. PMID: 31441606The unique population in the State of Qatar comprises over 2.6 million people who derived primarily from the Middle East and North Africa (MENA) and South Asia regions. Around 15% are indigenous Qataris of Arabian Peninsula ancestries, who have also immigrated to the St...

ey0017.7-9 | Basic Science | ESPEYB17

7.9. The dynamic transcriptional cell atlas of testis development during human puberty

J Guo , X Nie , M Giebler , H Mlcochova , Y Wang , EJ Grow , Connect Donor , R Kim , M Tharmalingam , G Matilionyte , C Lindskog , DT Carrell , RT Mitchell , A Goriely , JM Hotaling , BR Cairns

To read the full abstract: Cell Stem Cell vol. 26,2 (2020): 262–276.e4. doi: https://www.sciencedirect.com/science/article/pii/S1934590919305235?via%3DihubThis paper describes a transcriptional analysis of human spermatogonial stem cells during puberty and the involvement of testosterone in Sertoli cell maturation.The...

ey0016.3-6 | Thyroid and Pregnancy | ESPEYB16

3.6. Association of maternal iodine status with child IQ: a meta-analysis of individual-participant data

D Levie , TIM Korevaar , SC Bath , M Murcia , M Dineva , S Llop , M Espada , Herwaarden AE van , Rijke YB de , JM Ibarluzea , J Sunyer , H Tiemeier , MP Rayman , M Guxens , RP Peeters

To read the full abstract: J Clin Endocrinol Metab. 2019 Mar 28. pii: jc.2018-02559. [Epub ahead of print]This meta-analysis aimed to define the effect of mild to moderate iodine deficiency on child neurological outcome. The authors combined data from three large prospective national studies on 6180 mother child pairs with available urinary iodine and creatinine concentrations in pregnan...