ISSN 1662-4009 (online)

ey0019.4-8 | Long-acting growth hormone (LAGH) | ESPEYB19

4.8. Weekly lonapegsomatropin in treatment-naive children with growth hormone deficiency: the phase 3 height trial

PS Thornton , AK Maniatis , E Aghajanova , E Chertok , E Vlachopapadopoulou , Z Lin , W Song , E Dam Christoffersen , VM Breinholt , T Kovalenko , E Giorgadze , M Korpal-Szczyrska , PL Hofman , DB Karpf , AD Shu , Beckert M. Michael

J Clin Endocrinol Metab, 2021. 106(11): p. 3184-3195. PMID: 34272849Brief Summary: This randomized, open-label, controlled, phase 3 trial compared the effects of once-weekly long-acting GH lonapegsomatropin versus daily GH in GHD children over a period of 52 weeks. Efficacy was evaluated by height velocity (HV) and height gain from baseline to end. The long-acting formulation showed not only non-inferiority but also superior efficacy compared to...

ey0017.15-1 | (1) | ESPEYB17

15.1. Preconception diabetes mellitus and adverse pregnancy outcomes in over 6.4 million women: A population-based cohort study in China

Y Wei , Q Xu , H Yang , Y Yang , L Wang , H Chen , C Anderson , X Liu , G Song , Q Li , Q Wang , H Shen , Y Zhang , D Yan , Z Peng , Y He , Y Wang , Y Zhang , H Zhang , X Ma

To read the full abstract: PLoS Med. 2019 Oct 1;16(10):e1002926. doi: 10.1371/journal.pmed.1002926.The authors analysed a huge dataset from the Chinese national programme of preconception health checks, which include measurements of fasting plasma glucose. Overall, 13.15% (n =847,737) had impaired fasting glucose and 1.18% (n =76,297 women) had diabetes, of whom only...

ey0016.10-15 | (1) | ESPEYB16

10.15. Increased prevalence of disordered eating in the dual diagnosis of type 1 diabetes mellitus and celiac disease

I Tokatly Latzer , M Rachmiel , N Zuckerman Levin , K Mazor-Aronovitch , Z Landau , RF Ben-David , C GrafBar-El , N Gruber , N Levek , B Weiss , D Stein , L Lerner-Geva , O Pinhas-Hamiel

To read the full abstract: Pediatr Diabetes. 2018;19:749–755.Disordered eating behaviors (DEBs) may lead to full blown eating disorders and these might impair patients’ adherence to chronic disease management. Both type 1 diabetes mellitus (T1DM) and celiac disease (CD) are associated with DEBs. Adolescents with T1D and eating disorders have worse metabolic control and a higher...

ey0016.11-4 | New Insights into Body Weight Regulation | ESPEYB16

11.4. Dysregulation of a long noncoding RNA reduces leptin leading to a leptin-responsive form of obesity

OS Dallner , JM Marinis , YH Lu , K Birsoy , E Werner , G Fayzikhodjaeva , BD Dill , H Molina , A Moscati , Z Kutalik , P Marques-Vidal , TO Kilpelainen , N Grarup , A Linneberg , Y Zhang , R Vaughan , RJF Loos , MA Lazar , JM Friedman

To read the full abstract: Nature Medicine 2019; 25(3):507-516.This paper shows that quantitative leptin expression is controlled by redundant cis elements and trans factors that interact with the proximal promoter together with a long noncoding RNA.Friedman’s research group discovered the adipocyte hormone leptin more than 20 years ago. They identified loss o...

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

8.8 Noninvasive prenatal diagnosis of 21-hydroxylase deficiency using target capture sequencing of maternal plasma DNA

D Ma , Y Yuan , C Luo , Y Wang , T Jiang , F Guo , J Zhang , C Chen , Y Sun , J Cheng , P Hu , J Wang , H Yang , X Yi , W Wang , Asan , Z Xu

To read the full abstract: Sci Rep. 2017; 7(1): 7427Prenatal dexamethasone treatment has been suggested over three decades ago to prevent virilization of a female fetus affected with 21-hydroxylase deficiency due to genetic mutations in the CYP21A2 gene. However, current treatment guidelines for CAH regard this treatment still as experimental, mainly because follow-up studies of treated fetu...

ey0020.3-1 | Novel Treatments for Rare Skeletal Disorders | ESPEYB20

3.1. Safety and efficacy of denosumab for fibrous dysplasia of bone

LF de Castro , Z Michel , K Pan , J Taylor , V Szymczuk , S Paravastu , B Saboury , GZ Papadakis , X Li , K Milligan , B Boyce , SM Paul , MT Collins , AM Boyce

In Brief: This phase 2 study investigated the effect of the RANKL inhibitor denosumab on fibrous dysplasia lesion activity, as well as the rebound in bone turnover after treatment discontinuation.Commentary: Denosumab is a humanized monoclonal antibody that inhibits RANKL with potent but transient antiosteoclastic effects, and discontinuation of denosumab treatment is associated with a rebound in bone turnover. In this study, eight women received high do...

ey0020.3-14 | Advances in Growth, Bone Biology, and Mineral Metabolism | ESPEYB20

3.14. SIRT2 regulates extracellular vesicle-mediated liver-bone communication

L Lin , Z Guo , E He , X Long , D Wang , Y Zhang , W Guo , Q Wei , W He , W Wu , J Li , L Wo , D Hong , J Zheng , M He , Q Zhao

In Brief: These authors studied liver-specific SIRT2 knockout mice to examine how loss of hepatocyte SIRT2 (Sirtuin 2) prevents bone loss in aged mice. Hepatocyte SIRT2 deficiency led to upregulation of Leucine rich α2 glycoprotein (LRG1) in hepatocyte-derived small extracellular vesicles (sEVs) which inhibited osteoclastogenesis in bone marrow.Commentary: Liver-bone communication has been implicated in bone homeostasis. P...

ey0020.9-8 | Genetic Obesity and Genetic Risk Score | ESPEYB20

9.8. A National Multicenter Study of Leptin (LEP) and Leptin Receptor (LEPR) deficiency and systematic review

O Besci , SN Fırat , S Ozen , S Cetinkaya , L Akın , Y Kor , Z Pekkolay , S Ozalkak , E Ozsu , SS Erdeve , S Poyrazoglu , M Berberglu , M Aydin , T Omma , B Akinici , K Demir , EA Oral

Brief summary: This paper describes 18 patients with bi-allelic leptin deficiency (LEP, n=11) or leptin receptor deficiency (LEPR, n=7), including 10 new cases and two novel variants. In addition, in a review of the literature (until July 2022), the authors identified n=75 patients living with LEP deficiency and n=90 with LEPR deficiency (n=152 included for comparison between groups).<p class=...

ey0020.12-12 | Food for Thought | ESPEYB20

12.12. Associations between infant screen use, electroencephalography markers, and cognitive outcomes

EC Law , MX Han , Z Lai , S Lim , ZY Ong , V Ng , LJ Gabard-Durnam , CL Wilkinson , AR Levin , A Rifkin-Graboi , LM Daniel , PD Gluckman , YS Chong , MJ Meaney , CA Nelson

Brief summary: In the prospective population-based Growing Up in Singapore Toward Healthy Outcomes (GUSTO) study (n=437 children, 51.9% boys), the effect of parent-reported screen time in infancy was tested on EEG characteristics and correlated to cognitive outcome. Mean daily screen time at 12 months of age was 2 hours. Infant screen time was associated with altered cortical EEG activity at 18 months and was suggested to explain observed alterations in attention and ...

ey0020.13-4 | Section | ESPEYB20

13.4. Evolution of the germline mutation rate across vertebrates

LA Bergeron , S Besenbacher , J Zheng , P Li , MF Bertelsen , B Quintard , JI Hoffman , Z Li , J St Leger , C Shao , J Stiller , MTP Gilbert , MH Schierup , G Zhang

In Brief: The authors conducted genome sequencing on 151 mother–father–offspring trios from 68 vertebrate animal species in order to estimate and compare germline mutation rates (GMRs). They found a 40-fold variation in GMR per generation between the species. Higher GMRs were observed in species that have a longer generation time, older age at puberty and fewer offspring per generation.Comment: Mutations in germline DNA during gametogenesis are...