ISSN 1662-4009 (online)

ey0015.7-11 | New genes in hypogonadotropic hypogonadism | ESPEYB15

7.11 KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

C Xu , A Messina , E Somm , H Miraoui , T Kinnunen , J Acierno , NJ Niederländer , J Bouilly , AA Dwyer , Y Sidis , D Cassatella , GP Sykiotis , R Quinton , C De Geyter , M Dirlewanger , V Schwitzgebel , TR Cole , AA Toogood , JM Kirk , L Plummer , U Albrecht , WF Crowley , M Mohammadi , M Tena-Sempere , V Prevot , N Pitteloud

To read the full abstract: EMBO Mol Med. 2017 Oct;9(10):1379-1397[Comments on 7.10 and 7.11] During embryonic development, GnRH neurons originate in the olfactory placode and migrate through the nasal mesenchyme using the olfactory/vomeronasal axons as a scaffold to reach their final destination in the basal forebrain1,2. Th...

ey0020.2-8 | Long-Acting Growth Hormone (LAGH) | ESPEYB20

2.8. Efficacy and safety of weekly somatrogon vs daily somatropin in children with growth hormone deficiency: A phase 3 study

CL Deal , J Steelman , E Vlachopapadopoulou , R Stawerska , LA Silverman , M Phillip , HS Kim , C Ko , O Malievskiy , JF Cara , CL Roland , CT Taylor , SR Valluri , MP Wajnrajch , A Pastrak , BS Miller

Brief summary: This 12-months randomized, controlled, phase 3 study compared the efficacy and safety of once-weekly Somatrogon 0.66 mg/kg/week with once-daily somatropin in prepubertal children with GHD. The efficacy of once-weekly Somatrogon was noninferior to once-daily somatropin, with similar safety and tolerability profiles.Somatrogon (MOD-4023) is a long-acting rhGH recently approved by the European Medicines Agency for the treatment of children wi...

ey0018.9-13 | Cardiometabolic risk in chronic disease | ESPEYB18

9.13. Biomarkers of cardiometabolic complications in survivors of childhood acute lymphoblastic leukemia

S Morel , P Leveille , M Samoilenko , A Franco , J England , N Malaquin , V Tu , GB Cardin , S Drouin , F Rodier , S Lippe , M Krajinovic , C Laverdiere , D Sinnett , G Lefebvre , E Levy , V Marcil

Sci Rep. 2020 Dec 9; 10: 21507. https://pubmed.ncbi.nlm.nih.gov/33299020/This cross-sectional study of 246 childhood acute lymphoblastic leukemia (cALL) survivors aimed to analyze the relationships between various blood biomarkers and cardiovascular risk, and to test the link between endotoxemia and cardiometabolic complications. A high leptin-adiponectin ratio was associated with obesity, ...

ey0015.12-13 | New treatments | ESPEYB15

12.13 Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children with Heterozygous Familial Hypercholesterolemia: The CHARON Study (Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label)

M Braamskamp , G Langslet , BW McCrindle , D Cassiman , GA Francis , C Gagne , D Gaudet , KM Morrison , A Wiegman , T Turner , E Miller , DM Kusters , JS Raichlen , PD Martin , EA Stein , JJP Kastelein , BA Hutten

To read the full abstract: Circulation 2017;136:359-366The National Heart, Lung and Blood Institute Panel on integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents recommended a universal screening approach that would include one-time testing of all children aged 9-11 years for dyslipidemia. This recommendation has raised controversy regarding t...

ey0015.15-3 | Interventions for overweight and obesity do work | ESPEYB15

15.3 Diet, physical activity and behavioural interventions for the treatment of overweight or obese children from the age of 6 to 11 years

E Mead , T Brown , K Rees , LB Azevedo , V Whittaker , D Jones , J Olajide , GM Mainardi , E Corpeleijn , C O'Malley , E Beardsmore , L Al-Khudairy , L Baur , MI Metzendorf , A Demaio , LJ Ells

To read the full abstract: Cochrane Database Syst Rev 2017;6:CD012651Here, the authors report an update of a Cochrane review, which was first published in 2003, and last updated in 2009. However, given the complexity of the evidence, the current update is now split into 6 reviews addressing diff...

ey0016.3-5 | Thyroid and Pregnancy | ESPEYB16

3.5. Levothyroxine in women with thyroid peroxidase antibodies before conception

RK Dhillon-Smith , LJ Middleton , KK Sunner , V Cheed , K Baker , S Farrell-Carver , R Bender-Atik , R Agrawal , K Bhatia , E Edi-Osagie , T Ghobara , P Gupta , D Jurkovic , Y Khalaf , M MacLean , C McCabe , K Mulbagal , N Nunes , C Overton , S Quenby , R Rai , N Raine-Fenning , L Robinson , J Ross , A Sizer , R Small , A Tan , M Underwood , MD Kilby , K Boelaert , J Daniels , S Thangaratinam , SY Chan , A Coomarasamy

To read the full abstract: N Engl J Med. 2019;380:1316–1325.This large multicenter randomized double-blind placebo-controlled trial, in euthyroid women with thyroid peroxidase antibodies and a history of miscarriage or infertility, found no effect of levothyroxine substitution from before conception to the end of pregnancy on likelihood of live birth.In 2011, ...

ey0020.4-8 | Risk for Gonadal Malignancy and Gonadectomy in DSD | ESPEYB20

4.8. Consensus guide on prophylactic gonadectomy in different sex development

J Guerrero-Fernandez , P Gonzalez-Peramato , A Rodriguez Estevez , MJ Alcazar Villar , L Audi Parera , MC Azcona San Julian , A Carcavilla Urqui , LA Castano Gonzalez , JM Martos Tello , C Mora Palma , MF Moreno Macian , D Yeste Fernandez , M Nistal

Brief summary: This review article offers an update on knowledge on prophylactic gonadectomy in differences of sex development (DSDs) and evaluates the latest existing clinical evidence, which is generally limited, on risk of gonadal neoplasia potential in each group of DSDs.On average 15% of DSD patients with Y chromosome material predispose to gonadal neoplasms especially gonadal germ cell tumors (GGCTs); the overall risk ranges between 0.8% and 40% de...

ey0018.3-14 | Clinical studies | ESPEYB18

3.14. Identification of resistance to exogenous thyroxine in humans

N Lacamara , B Lecumberri , B Barquiel , A Escribano , I Gonzalez-Casado , C Alvarez-Escola , F Aleixandre-Blanquer , F Morales , R Alfayate , MC Bernal-Soriano , R Miralles , I Yildirim Simsir , AG Ozgen , J Bernal , P Berbel , JC Moreno

Thyroid. 2020;30:1732–1744. doi: 10.1089/thy.2019.0825.This study is of importance, revealing a relevant clinical problem in patients under long-term levothyroxine (LT4) substitution and challenging the concept that all hypothyroid patients can be well controlled with LT4 monotherapy.Lacámara et al. present a small but elegant clinical study describi...

ey0017.6-14 | Differences/Disorders of Sex Development: Psychology and Mental Health | ESPEYB17

6.14. Mental health of a large group of adults with disorders of sex development in six European countries

ALC De Vries , R Roehle , L Marshall , L Frisen , TC van de Grift , BPC Kreukels , C Bouvattier , B Kohler , U Thyen , A Nordenstrom , M Rapp , PT Cohen-Kettenis , Group dsd-LIFE

To read the full abstract: Psychosom Med. 2019, Sep; 81: 629–40. doi: https://www.ncbi.nlm.nih.gov/pubmed/31232913The cross-sectional European dsd-LIFE questionnaire study assessed self-reported health outcomes, including psychiatric diagnoses and symptoms, sexuality (1) and body image (2) in 1040 adolescents and adults with DSD from six European countries. It compared mental health...

ey0018.4-12 | New Perspectives | ESPEYB18

4.12. DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age

S Peeters , K Declerck , M Thomas , E Boudin , D Beckers , O Chivu , C Heinrichs , K Devriendt , F de Zegher , Hul Van , Vanden Wim , V Berghe , J De Schepper , R Rooman , G Mortier

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...