ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 13 of about 453 results

ey0021.11-17 | Adipocyte Dysfunction and Obesity Related Comorbidities | ESPEYB21

11.17. At any level of adiposity, relatively elevated leptin concentrations are associated with decreased insulin sensitivity

M Chiriaco , L Nesti , A Flyvbjerg , A Golay , J-A Nazare , C-H Anderwald , A Mitrakou , R Bizzotto , A Mari , A Natali

Brief Summary: This study compared 2 groups of adults defined by their leptin concentrations relative to fat mass. Adults with ‘relatively high leptin’ (RHL, n=646) or ‘relatively low leptin’ (RLL, n=644) concentrations were compared in insulin concentration, insulin secretion, and insulin sensitivity, at both the whole-body level and within adipose tissue. Individuals with RHL showed a distinct metabolic phenotype, characterized by insulin resistance in bo...
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ey0018.2-14 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB18

2.14. Early diagnosed gestational diabetes mellitus is associated with adverse pregnancy outcomes: A prospective cohort study

B Liu , J Cai , Y Xu , Y Long , L Deng , S Lin , J Zhang , J Yang , L Zhong , Y Luo , Y Zhou , Y Zhang , Z Li , H Chen , Z Wang

J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa633. doi: 10.1210/clinem/dgaa633. PMID: 32898218.In this study, low risk pregnant women had an ‘early’ OGTT at 18-20 weeks of gestation and these results were correlated with the standard OGTT at 24-28 weeks. Pregnant women with Gestational diabetes mellitus (GDM) who had early OGTT still had a higher risk of delivering macrosomic in...
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ey0018.5-11 | Translational highlights | ESPEYB18

5.11. Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype

Tonelli F , Cotti S , Leoni L , Besio R , Gioia R , Marchese L , Giorgetti S , Villani S , Gistelinck C , Wagener R , Kobbe B , Fiedler I A K , Larionova D , Busse B , Eyre D , Rossi A , Witten P E , Forlino A

Matrix Biol. 2020 Aug;90:40–60 Abstract: https://pubmed.ncbi.nlm.nih.gov/32173581/In brief: Mutations in 3-hydroxylation complex genes CRTAP and P3H1 cause osteogenesis imperfecta type VII and VIII, respectively. However, the pathogenic mechanism by which these mutations cause disease remains unclear. This study points to a defective chaperone role of the 3-h...
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ey0018.6-4 | Basic and Genetic Research of DSD | ESPEYB18

6.4. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

H Mandel , N Cohen Kfir , A Fedida , E Shuster Biton , M Odeh , L Kalfon , S Ben- Harouch , V Fleischer Sheffer , Y Hoffman , Y Goldberg , A Dinwiddie , E Dumin , A Eran , L Apel-Sarid , D Tiosano , TC Falik-Zaccai

Clin Genet. 2020 Oct;98(4):402–407. 10.1111/cge.13816. PMID: 32683677.This short report describes two 46,XY siblings of consanguineous parents manifesting a complex syndrome consisting of multiple dysmorphic features including growth and developmental retardation, gastrointestinal disorders, musculoskeletal and cardiac anomalies, as well as ambiguous genitalia (non-palpable testes, micropenis, und...
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ey0019.1-4 | Basic Science and Stem Cells | ESPEYB19

1.4. Pituitary stem cells produce paracrine WNT signals to control the expansion of their descendant progenitor cells

P Russell John , Lim Xinhong , Santambrogio Alice , Yianni Val , Kemkem Yasmine , Wang Bruce , Fish Matthew , Haston Scott , Grabek Anae¨lle , Hallang Shirleen , J Lodge Emily , L Patist Amanda , Schedl Andreas , Mollard Patrice , Nusse Roel , Andoniadou Cynthia L

Elife. 2021 Jan. 10:e59142. doi: https://doi.org/10.7554/eLife.59142.Brief Summary: The authors studied genetic mice models to show that pituitary stem cells can secrete WNT ligands to their committed progeny and promote their expansion.The anterior pituitary contains a population of Sox2 expressing stem cells (Sox2+ PSCs), which self-renew and give rise to lineage...
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ey0019.6-3 | Co-morbidities associated with DSD | ESPEYB19

6.3. Vascular dysfunction and increased cardiovascular risk in hypospadias

AK Lucas-Herald , AC Montezano , R Alves-Lopes , L Haddow , M Alimussina , S O'Toole , M Flett , B Lee , SB Amjad , M Steven , K Brooksbank , L McCallum , C Delles , S Padmanabhan , SF Ahmed , RM Touyz

Eur Heart J. 2022 Mar 17:ehac112. PMID: 35296881, doi: 10.1093/eurheartj/ehac112.Brief Summary: This translational study explored the molecular and cellular mechanisms whereby testosterone impacts vascular function. The findings suggest that hypospadias is associated with vascular dysfunction and represents a risk factor for hypertension and cardiovascular disease in adulthood due to impair...
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ey0019.6-13 | Gender Incongruence: Growth and fertility in transgender girls | ESPEYB19

6.13. Adolescent transgender females present impaired semen quality that is suitable for intracytoplasmic sperm injection even before initiating gender-affirming hormone treatment

H Amir , L Perl , S Barda , D Lantsberg , AS Becker , G Israeli , F Azem , A. Ad Amir H Oren , L Perl , S Barda , D Lantsberg , AS Becker , G Israeli , F Azem , A Oren

Reprod Sci. 2022 Jan;29(1):260-269. PMID: 33788173, doi: 10.1007/s43032-021-00561-y. Brief Summary: This study from Israel investigated semen samples from 26 transgender girls aged 14-18 years and notes a general reduction in semen quality parameters. Fertility counselling is mandatory in all transgender adolescents prior to considering hormone interventions, but in ...
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ey0019.8-12 | New Paradigms | ESPEYB19

8.12. Glucocorticoid-induced fingerprints on visceral adipose tissue transcriptome and epigenome

G Garcia-Eguren , M Gonzalez-Ramirez , P Vizan , O Giro , A Vega-Beyhart , L Boswell , M Mora , I Halperin , F Carmona , M Gracia , G Casals , M Squarcia , J Ensenat , O Vidal , Croce L Di , FA Hanzu

J Clin Endocrinol Metab. 2022; 107(1): 150-166. PMID: 34487152https://pubmed.ncbi.nlm.nih.gov/34487152/Brief Summary: This translational study determined the persistent visceral adipose tissue (VAT) transcriptomic alterations and epigenetic fingerprints induced by chronic hypercortisolism in patients with Cushing’s syndrome (CS) and in a reversible CS mouse model....
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ey0019.9-16 | Bone health in chronic disease | ESPEYB19

9.16. Skeletal adverse events in childhood cancer survivors: An adult life after childhood cancer in Scandinavia cohort study

T Oskarsson , AK Duun-Henriksen , A Bautz , S Montgomery , A Harila-Saari , C Petersen , R Niinimaki , L Madanat-Harjuoja , L Tryggvadottir , AS Holmqvist , H Hasle , M Heyman , JF Winther , ALiCCS study group

trausti.oskarsson@ki.se Int J Cancer. 2021; 149: 1863-1876. PMID: 34278568.Brief Summary: This population-based study retrospectively compared hospital admissions for skeletal issues in a group of 26,334 cancer survivors (CCS) diagnosed before 20 years of age and 127,531 matched controls. 1,987 CCS vs 8,986 controls had at least one skeletal adverse event. Total hospitalization rate ratio (RR) for ske...
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ey0019.11-2 | Genetic obesity: findings in clinical cohorts – how to interpret results? | ESPEYB19

11.2. Rare variant analysis of obesity-associated genes in young adults with severe obesity from a consanguineous population of Pakistan

S Saeed , QM Janjua , A Haseeb , R Khanam , E Durand , E Vaillant , L Ning , A Badreddine , L Berberian , M Boissel , S Amanzougarene , M Canouil , M Derhourhi , A Bonnefond , M Arslan , P Froguel

p.froguel@imperial.ac.uk Diabetes 2022;71:694–705https://doi.org/10.2337/db21-0373Brief Summary: In this observational cross-sectional study in 128 randomly selected young obese adults (BMI 37.2±0.3 kg/m2; age 18.4±0.3 years) from the Severe Obesity in Pakistani Population (SOPP), screening by whole-exome analysis found 3% had ...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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