ISSN 1662-4009 (online)

Previous issue | Volume 20 | ESPEYB20

Yearbook of Paediatric Endocrinology 2023

ey0020.13-1 | Section | ESPEYB20

13.1. Taurine deficiency as a driver of aging

P Singh , K Gollapalli , S Mangiola , D Schranner , MA Yusuf , M Chamoli , SL Shi , B Lopes Bastos , T Nair , A Riermeier , EM Vayndorf , JZ Wu , A Nilakhe , CQ Nguyen , M Muir , MG Kiflezghi , A Foulger , A Junker , J Devine , K Sharan , SJ Chinta , S Rajput , A Rane , P Baumert , M Schonfelder , F Iavarone , G di Lorenzo , S Kumari , A Gupta , R Sarkar , C Khyriem , AS Chawla , A Sharma , N Sarper , N Chattopadhyay , BK Biswal , C Settembre , P Nagarajan , KL Targoff , M Picard , S Gupta , V Velagapudi , AT Papenfuss , A Kaya , MG Ferreira , BK Kennedy , JK Andersen , GJ Lithgow , AM Ali , A Mukhopadhyay , A Palotie , G Kastenmuller , M Kaeberlein , H Wackerhage , B Pal , VK Yadav

In Brief: The authors describe a wide range of studies. Firstly, observational studies showed that circulating taurine concentrations decline with age in mice, monkeys, and humans – and in the latter, low taurine was associated with metabolic disease (abdominal fat, blood pressure, Type 2 diabetes). They then gave oral taurine to mice throughout their lives and showed that this increased lifespan by 10–12% and improved functional outcomes of almost all tissues studie...

ey0020.13-2 | Section | ESPEYB20

13.2. Somatic mutation rates scale with lifespan across mammals

A Cagan , A Baez-Ortega , N Brzozowska , F Abascal , THH Coorens , MA Sanders , ARJ Lawson , LMR Harvey , S Bhosle , D Jones , RE Alcantara , TM Butler , Y Hooks , K Roberts , E Anderson , S Lunn , E Flach , S Spiro , I Januszczak , E Wrigglesworth , H Jenkins , T Dallas , N Masters , MW Perkins , R Deaville , M Druce , R Bogeska , MD Milsom , B Neumann , F Gorman , F Constantino-Casas , L Peachey , D Bochynska , ESJ Smith , M Gerstung , PJ Campbell , EP Murchison , MR Stratton , I Martincorena

In Brief: To document variations in rates of somatic mutations, the authors performed whole-genome sequencing of DNA from cells of intestinal crypts across 16 diverse mammalian species, spanning huge 40 000-fold variations in body mass and 30-fold variations in lifespan. The somatic mutation rates per year varied greatly across species and showed a much stronger inverse relationship with species lifespan than with species body mass.Comment: Peto’s p...

ey0020.13-3 | Section | ESPEYB20

13.3. Evolutionary constraint and innovation across hundreds of placental mammals

MJ Christmas , IM Kaplow , DP Genereux , MX Dong , GM Hughes , X Li

In Brief: The authors of this large international project describe the generation of ‘Zoonomia’, which is a large comparative genomics resource covering 240 different mammalian species. Among their many findings, the authors use this resource to: i) document the vast range of biodiversity on earth, ii) identify 3.6 million genomic sites that are perfectly conserved across species, indicating genes and regulatory regions that are likely essential for mammalian surviva...

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...

ey0020.13-5 | Section | ESPEYB20

13.5. Intermittently scanned continuous glucose monitoring for type 1 diabetes

L Leelarathna , ML Evans , S Neupane , G Rayman , S Lumley , I Cranston , P Narendran , K Barnard-Kelly , CJ Sutton , RA Elliott , VP Taxiarchi , G Gkountouras , M Burns , W Mubita , N Kanumilli , M Camm , H Thabit , EG Wilmot , FLASH-UK Trial Study Group

In Brief: This multicenter, randomised controlled trial in 156 adults (mean age 44 years) with type 1 diabetes (T1D) showed benefits of intermittently scanned continuous glucose monitoring (CGM) (intervention) compared to usual monitoring of blood glucose levels by fingerprick testing on: lower HbA1c (−0.5%; P<0.001), 130 minutes/day longer duration of ‘in target’ glucose levels, and 43 minutes/day shorter time spent with hypoglycaemic blood glucos...

ey0020.13-6 | Section | ESPEYB20

13.6. Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications

Suzuki Ken , Hatzikotoulas Konstantinos , Southam Lorraine , Taylor Henry J , Yin Xianyong , Lorenz Kim M

In Brief: The authors report the largest genetic study to date of Type 2 diabetes (T2D), pooling genome-wide association study (GWAS) data from 2 535 601 individuals (39.7% non-European ancestry), including 428 452 T2D cases. They identified 1289 independent association signals at genome-wide significance (P<5×10−8). These T2D GWAS signals could be separated into eight nonoverlapping clusters, characterised by distinct cardiometabolic disease...

ey0020.13-7 | Section | ESPEYB20

13.7. Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism

E Rosenfeld , DD De Leon

In Brief: The authors review advances in our understanding of congenital hyperinsulinism (CHI), including newly described molecular mechanisms, new treatments, and improved understanding of long-term outcomes.Comment: We apologise for the absence of the chapter on neonatal endocrinology in this year’s edition of the yearbook. It will be back next year! In the meantime, this review provides an excellent update on new advances in CHI, covering new mol...

ey0020.13-8 | Section | ESPEYB20

13.8. Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

MN Wakeling , NDL Owens , JR Hopkinson , MB Johnson , JAL Houghton , A Dastamani , CS Flaxman , RC Wyatt , TI Hewat , JJ Hopkins , TW Laver , R van Heugten , MN Weedon , E De Franco , KA Patel , S Ellard , NG Morgan , E Cheesman , I Banerjee , AT Hattersley , MJ Dunne , International Congenital Hyperinsulinism Consortium , SJ Richardson , SE Flanagan

In Brief: The authors performed whole genome sequencing on 135 patients with congenital hyperinsulinaemia (CHI) who had negative genetic testing for previously known CHI genes. They identified nine different non-coding de novo variants (carried by 14 probands) located in a regulatory region of HK1 intron 2 that co-segregated with disease in families.Comment: HK1 is a ‘disallowed gene’ in the liver and pancreatic beta cells. Th...

ey0020.13-9 | Section | ESPEYB20

13.9. Obesity in pregnancy

AA Creanga , PM Catalano , BT Bateman

In Brief: The authors provide a comprehensive review of the health challenges of obesity in pregnancy, covering its epidemiology, associated risks for pregnancy, childbirth, fetus and offspring. They also discuss the evidence for lifestyle interventions during pregnancy and also the benefits and risks of bariatric surgery prior to conception.Comment: Remarkably in the USA in 2020, only two out of every five pregnant women had a normal weight status &#150...

ey0020.13-10 | Section | ESPEYB20

13.10. Race-dependent association of high-density lipoprotein cholesterol levels with incident coronary artery disease

NA Zakai , J Minnier , MM Safford , I Koh , MR Irvin , S Fazio , M Cushman , VJ Howard , N Pamir

In Brief: In this US cohort study of 30,239 Black and White individuals aged >=45 years followed up for a median of 10 years, low baseline levels of HDL-Cholesterol (HDL-C) were associated with increased risk of coronary heart disease (CHD) in White (HR: 1.22; 95% CI: 1.05–1.43) but not in Black (HR: 0.94; 95% CI: 0.78–1.14) adults (P-interaction by race =0.08).Comment: The established clinical risk factors for coronary heart disea...

ey0020.13-11 | Section | ESPEYB20

13.11. Etiology of the broad avoidant restrictive food intake disorder phenotype in Swedish twins aged 6 to 12 years

L Dinkler , ML Wronski , P Lichtenstein , S Lundstrom , H Larsson , N Micali , MJ Taylor , CM Bulik

In Brief: The authors analysed data from the nationwide Child and Adolescent Twin Study in Sweden (CATSS) to estimate the heritability of avoidant restrictive food intake disorder (ARFID) as defined by DSM-5 criteria. Of the 16 951 twin pairs born between 1992 and 2010, 682 (2.0%) children were identified to have ARFID. By modelling shared risk in monozygous compared to dizygous twin pairs, they estimated the heritability of ARFID as 79% (95%CI, 70–85).<...

ey0020.13-12 | Section | ESPEYB20

13.12. Embryo model completes gastrulation to neurulation and organogenesis

G Amadei , CE Handford , C Qiu , J De Jonghe , H Greenfeld , M Tran , BK Martin , DY Chen , A Aguilera-Castrejon , JH Hanna , MB Elowitz , F Hollfelder , J Shendure , DM Glover , M Zernicka-Goetz

In Brief: The authors created mouse embryos in the laboratory from a combination of multiple stem cell lines. These embryos were developed ex vivo up to the equivalent of day 8.5 post-fertilization. Embryos developed within an extraembryonic yolk sac and were similar to whole natural embryos, with defined forebrain and midbrain regions, a beating heart-like structure, a neural tube and somites, a tail bud containing neuromesodermal progenitors, a gut tube, and also pr...