ISSN 1662-4009 (online)

ey0018.7-6 | Clinical Guidance | ESPEYB18

7.6. GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty

H Mosbah , C Bouvattier , L Maione , S Trabado , G De Filippo , A Cartes , A Donzeau , P Chanson , S Brailly-Tabard , AA Dwyer , R Coutant , J Young

Hum Reprod. 2020 Oct 1;35(10):2312–2322. 10.1093/humrep/deaa185. PMID: 32862222. https://academic.oup.com/humrep/article/35/10/2312/5899242In brief: This study shows that both the GnRH stimulation test and serum inhibin B have insufficient specificity to discriminate congenital hypogonadotropic hypogonadism (CHH) from c...

ey0019.11-12 | Weight regulation and endocrine circuits (including interventions) | ESPEYB19

11.12. Lower circulating sertoli and leydig cell hormone levels during puberty in obese boys: a cross-sectional study

S Rerat , J Amsellem-Jager , MC L'hour , N Bouhours-Nouet , A Donzeau , S Rouleau , L Levaillant , F Emeriau , V Moal , F Boux de Casson , N Lahlou , R Coutant

regis.coutant@chu-angers.fr J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1568–e1576. doi: 10.1210/clinem/dgab845https://pubmed.ncbi.nlm.nih.gov/34918072/Brief Summary: This cross-sectional study describes how levels of Sertoli and Leydig cell hormones differ between 351 obese and overw...

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 ...

ey0019.9-1 | Cancer treatment and growth hormone therapy: a consensus | ESPEYB19

9.1. Safety of growth hormone replacement in survivors of cancer and intracranial and pituitary tumours: a consensus statement

MCS Boguszewski , CL Boguszewski , W Chemaitilly , LE Cohen , J Gebauer , C Higham , AR Hoffman , M Polak , KCJ Yuen , N Alos , Z Antal , M Bidlingmaier , BMK Biller , G Brabant , CSY Choong , S Cianfarani , PE Clayton , R Coutant , AA Cardoso-Demartini , A Fernandez , A Grimberg , K Guðmundsson , J Guevara-Aguirre , KKY Ho , R Horikawa , AM Isidori , JOL Jorgensen , P Kamenicky , N Karavitaki , JJ Kopchick , M Lodish , X Luo , AI McCormack , L Meacham , S Melmed , Moab S Mostoufi , HL Muller , SJCMM Neggers , Oliveira MH Aguiar , K Ozono , PA Pennisi , V Popovic , S Radovick , L Savendahl , P Touraine , HM van Santen , G Johannsson

n.karavitaki@bham.ac.uk Eur J Endocrinol. 2022; 186: P35-P52. PMID: 35319491.Brief Summary: An international panel of experts produced this consensus statement after critical review of the existing evidence on the safety of GH replacement in cancer and intracranial tumour survivors and in patients with increased cancer risk. Current evidence does not support an association betwe...

ey0020.1-8 | Genetics | ESPEYB20

1.8. The severity of congenital hypothyroidism with gland-in-situ predicts molecular yield by targeted NGS

L Levaillant , N Bouhours-Nouet , F Illouz , JA Jager , A Bachelot , P Barat , S Baron , C Bensignor , AB De La Perriere , YB Djellas , M Caillot , E Caldagues , MN Campas , M Caquard , A Cartault , J Cheignon , A Decrequy , B Delemer , K Dieckmann , A Donzeau , E Doye , M Fradin , M Gaudilliere , F Gatelais , M Gorce , I Hazart , N Houcinat , L Houdon , M Ister-Salome , L Jozwiak , P Jeannoel , F Labarthe , D Lacombe , AS Lambert , C Lefevre , B Leheup , C Leroy , B Maisonneuve , I Marchand , E Marquant , M Muszlak , L Pantalone , S Pochelu , C Quelin , C Radet , P Renoult-Pierre , R Reynaud , S Rouleau , C Teinturier , J Thevenon , C Turlotte , A Valle , M Vierge , C Villanueva , A Ziegler , X Dieu , N Bouzamondo , P Rodien , D Prunier-Mirebeau , R Coutant

Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based on these data, diagnostic yield was higher in patients with gland-in-situ, than with thyroid dysgenesis. Further studies performed NGS only in cohorts of patients with gland-in-situ, excluding thyroid dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication of Levaillant ...

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...