ISSN 1662-4009 (online)

ey0015.8-10 | Important for Clinical Practice | ESPEYB15

8.10 Guidelines for the Diagnosis and Management of Critical Illness-Related Corticosteroid Insufficiency (CIRCI) in Critically Ill Patients (Part I): Society of Critical Care Medicine (SCCM) and European Society of Intensive Care Medicine (ESICM) 2017

D Annane , SM Pastores , B Rochwerg , W Arlt , RA Balk , A Beishuizen , J Briegel , J Carcillo , M Christ-Crain , MS Cooper , PE Marik , G Umberto Meduri , KM Olsen , SC Rodgers , JA Russell , G Van den Berghe

To read the full abstract: Crit Care Med. 2017; 45(12): 2078-2088This guideline replaces/updates the 2008 recommendations regarding the diagnosis and management of critical illness-related corticosteroid insufficiency (CIRCI) in adult and pediatric patients. In CIRCI, inadequate glucocorticoid-mediated anti-inflammatory activity is observed in relation to the severity of the critical illne...

ey0020.1-4 | Thyroid Development | ESPEYB20

1.4. Transplantable human thyroid organoids generated from embryonic stem cells to rescue hypothyroidism

M Romitti , A Tourneur , B de Faria da Fonseca , G Doumont , P Gillotay , XH Liao , SE Eski , G Van Simaeys , L Chomette , H Lasolle , O Monestier , DF Kasprzyk , V Detours , SP Singh , S Goldman , S Refetoff , S Costagliola

Brief summary: In recent years, generation of human organoids of different tissues from human embryonic stem cells have been realized, e.g. intestine, liver, and lung among others. In contrast, so far all attempts to generate fully mature and functional human thyroid follicular cells from stem cells was not successful. Romitti et al. present for the first time successful generation of transplantable and functional human thyroid organoids derived from human embryonic s...

ey0020.3-5 | Advances in Clinical Practice | ESPEYB20

3.5. High bone mass disorders: New insights from connecting the clinic and the bench

DJM Bergen , A Maurizi , MM Formosa , GLK McDonald , A El-Gazzar , N Hassan , ML Brandi , JA Riancho , F Rivadeneira , E Ntzani , EL Duncan , CL Gregson , DP Kiel , MC Zillikens , L Sangiorgi , W Hogler , I Duran , O Makitie , W Van Hul , G Hendrickx

In Brief: This comprehensive review classifies the known high bone mass (HBM) disorders based on Gene Ontology (GO) nomenclature. The authors emphasize the importance of functional genomics in the discovery of new HBM genes and discuss strategies to improve understanding of the underlying pathogenic mechanisms and inform the development of therapeutic approaches.Commentary: HBM disorders are typically defined by a high areal bone marrow density (BMD) <em...

ey0018.3-13 | Clinical studies | ESPEYB18

3.13. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

S Groeneweg , FS van Geest , A Abacı , A Alcantud , GP Ambegaonkar , CM Armour , P Bakhtiani , D Barca , ES Bertini , IM van Beynum , N Brunetti-Pierri , M Bugiani , M Cappa , G Cappuccio , B Castellotti , C Castiglioni , K Chatterjee , IFM de Coo , R Coutant , D Craiu , P Crock , C DeGoede , K Demir , A Dica , P Dimitri , A Dolcetta-Capuzzo , MHG Dremmen , R Dubey , A Enderli , J Fairchild , J Gallichan , B George , EF Gevers , A Hackenberg , Z Halasz , B Heinrich , T Huynh , A Kłosowska , MS van der Knaap , MM van der Knoop , D Konrad , DA Koolen , H Krude , A Lawson-Yuen , J Lebl , M Linder-Lucht , CF Lorea , CM Lourenco , RJ Lunsing , G Lyons , J Malikova , EE Mancilla , A McGowan , V Mericq , FM Lora , C Moran , KE Muller , I Oliver-Petit , L Paone , PG Paul , M Polak , F Porta , FO Poswar , C Reinauer , K Rozenkova , TS Menevse , P Simm , A Simon , Y Singh , M Spada , J van der Spek , MAM Stals , A Stoupa , GM Subramanian , D Tonduti , S Turan , CA den Uil , J Vanderniet , A van der Walt , JL Wemeau , J Wierzba , MY de Wit , NI Wolf , M Wurm , F Zibordi , A Zung , N Zwaveling-Soonawala , WE Visser

Lancet Diabetes Endocrinol. 2020;8:594–605. doi: 10.1016/S2213-8587(20)30153-4.Groenenweg et al. present the so far largest retrospective multicentre cohort study on 151 patients with 73 different MCT8 (SLC16A2) mutations to compare and describe in detail the phenotypic spectrum and the disease course of MCT8 deficiency. The careful description of presenting cl...

ey0018.3-8 | Congenital hypothyroidism | ESPEYB18

3.8. Congenital hypothyroidism: A 2020-2021 consensus guidelines update-An ENDO-European Reference Network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

P van Trotsenburg , A Stoupa , J Leger , T Rohrer , C Peters , L Fugazzola , A Cassio , C Heinrichs , V Beauloye , J Pohlenz , P Rodien , R Coutant , G Szinnai , P Murray , B Bartes , D Luton , M Salerno , L de Sanctis , M Vigone , H Krude , L Persani , M Polak

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...

ey0018.8-8 | Clinical Trials – New Treatments | ESPEYB18

8.8. Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials

K Clement , E van den Akker , J Argente , A Bahm , WK Chung , H Connors , K De Waele , IS Farooqi , J Gonneau-Lejeune , G Gordon , K Kohlsdorf , C Poitou , L Puder , J Swain , M Stewart , G Yuan , M Wabitsch , P; Setmelanotide POMC and LEPR Phase 3 Trial Investigators Kuhnen

Lancet Diabetes Endocrinol. 2020 Dec;8(12):960–970.https://pubmed.ncbi.nlm.nih.gov/33137293/This article reports the results of two single-arm, open-label, multicentre, phase 3 trials of the MC4R agonist, setmelanotide, in patients with severe obesity due to pro-opiomelanocortin (POMC) deficiency or leptin receptor (LEPR) deficiency. Mean % change in bodyweight after ~1 year was &#8722...

ey0018.12-13 | Lipids | ESPEYB18

12.13. Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

M Futema , U Ramaswami , L Tichy , MP Bogsrud , KB Holven , J Roeters van Lennep , A Wiegman , OS Descamps , A De Leener , E Fastre , M Vrablik , T Freiberger , H Esterbauer , H Dieplinger , S Greber-Platzer , AM Medeiros , M Bourbon , V Mollaki , E Drogari , SE Humphries

Atherosclerosis. 2021 Feb;319:108–117. doi: 10.1016/j.atherosclerosis.2021.01.008. PMID: 33508743.In brief: This multi-centre study included 2866 children with familial hypercholesterolemia (FH) from 8 European countries. The mutation spectrum was assessed, as were associations between gene mutations and clinical characteristics and pre and post-treatment lipid ...

ey0019.6-4 | Co-morbidities associated with DSD | ESPEYB19

6.4. Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

LJW Tack , der Straaten S van , S Riedl , A Springer , PM Holterhus , NC Hornig , Z Kolesinska , M Niedziela , F Baronio , A Balsamo , SE Hannema , A Nordenstrom , S Poyrazoglu , FF Darendeliler , R Grinspon , R Rey , F Aljuraibah , J Bryce , F Ahmed , R Tadokoro-Cuccaro , I Hughes , G Guaragna-Filho , AT Maciel-Guerra , G Guerra-Junior , M Cools

Clin Endocrinol (Oxf). 2022 Feb;96(2):165-174. PMID: 34668586, doi: 10.1111/cen.14614.Brief Summary: This retrospective case-control study used data from the international DSD registry to investigate the long-term outcomes of males born small for gestational age (SGA) with hypospadias/DSD. A large cohort of 179 boys (115 males born SGA; 64 appropriate for gestational age) was investigated for growt...

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...

ey0017.4-12 | New paradigms | ESPEYB17

4.12. IGSF1 Deficiency results in human and murine somatotrope neurosecretory hyperfunction

SD Joustra , F Roelfsema , ASP van Trotsenburg , HJ Schneider , RP Kosilek , HM Kroon , JG Logan , NC Butterfield , X Zhou , C Toufaily , B Bak , MO Turgeon , E Brule , FJ Steyn , M Gurnell , O Koulouri , P Le Tissier , P Fontanaud , JHD Bassett , GR Williams , W Oostdijk , JM Wit , AM Pereira , NR Biermasz , DJ Bernard , N Schoenmakers

To read the full abstract: J Clin Endocrinol Metab, March 2020, 105(3):e70–e84A cohort of 21 adult males (aged 19 to 89 years) harboring hemizygous pathogenic IGSF1 gene mutations underwent anthropometry, endocrine testing, testis ultrasonography, and body composition assessment to define the pathophysiological role of IGSF1 in influencing GH secretion. In addition, two lines of Igsf1 -deficient male mice were use...