Abstract Search

ey0019.4-3 | Important for clinical practice | ESPEYB19

4.3. Growth hormone treatment in the pre-transplant period is associated with superior outcome after pediatric kidney transplantation

C Jagodzinski , S Mueller , R Kluck , K Froede , L Pavicic , J Gellermann , D Mueller , U Querfeld , D Haffner , M Zivicnjak

Pediatr Nephrol, 2022. 37(4): p. 859-869 PMID: 34542703Brief Summary: This prospective observational cohort study investigated growth rate after kidney transplant in children with chronic kidney disease (CKD) and growth failure, who received or did not receive rhGH treatment before transplantation. Patients pre-treated with rhGH showed better growth rates with taller height SDS at 7 years after transplantation. Positive effects of pre-transplant...

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ey0021.2-12 | Newborn Screening for ALD | ESPEYB21

2.12. Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy

Alcantara J Ramirez , NR Grant , S Sethuram , A Nagy , C Becker , I Sahai , T Stanley , A Halper , FS Eichler

Brief Summary: This retrospective chart review included 116 patients aged 0 to 17 y (M:F 94%:6%) with X-linked adrenoleukodystrophy (ALD) managed in one expert medical center from 2006 to 2022. It assessed the impact of newborn screening (which began in the U.S. in 2013 based on measurement of a lysophosphatidylcholine derivative of a very long chain fatty acid (VLCFA) C26:0-LPC, followed if abnormal by ABCD1 gene sequencing), on the age and presentation of adrenal in...

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ey0021.8-10 | Important for Clinical Practice | ESPEYB21

8.10. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert consensus statement

D Taieb , S Nolting , ND Perrier , M Fassnacht , JA Carrasquillo , AB Grossman , R Clifton-Bligh , GB Wanna , ZG Schwam , L Amar , I Bourdeau , RT Casey , J Crona , CL Deal , J Del Rivero , QY Duh , G Eisenhofer , T Fojo , HK Ghayee , AP Gimenez-Roqueplo , AJ Gill , R Hicks , A Imperiale , A Jha , MN Kerstens , RR de Krijger , A Lacroix , I Lazurova , FI Lin , C Lussey-Lepoutre , ER Maher , O Mete , M Naruse , N Nilubol , M Robledo , F Sebag , NS Shah , A Tanabe , GB Thompson , HJLM Timmers , J Widimsky , Jr Young WJ , L Meuter , JWM Lenders , K Pacak

Brief Summary: The management of phaeochromocytomas and paragangliomas in patients with pathogenic variants of succinate dehydrogenase complex iron sulfur subunit B ( SDHD ) gene is complex. An international group of experts performed a critical review of the evidence to produce this consensus statement to assist clinical decision-making.Comment: Pathogenic variants in succinate dehydrogenase complex iron sulfur subunit B ( SDHD ) gene ...

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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 ...

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ey0019.14-6 | Steroidogenesis and beyond | ESPEYB19

14.6. Altered steroidome in women with gestational diabetes mellitus: Focus on neuroactive and immunomodulatory steroids from the 24th week of pregnancy to labor

L Ond�ejikova , A Pa�izek , P Šimjak , D Vejražkova , M Velikova , K Anderlova , M Vosatkova , H Krejči , M Koucky , R Kancheva , M Duškova , M Vaňkova , J Blunt , M Hill

Biomolecules 2021;11:1746 doi: 10.3390/biom11121746Brief summary: Comprehensive steroid profiling of pregnant women with and without gestational diabetes mellitus (GDM) during late gestation revealed specific GDM-related steroidomic changes, linking the maternal compartment to GDM pathophysiology and highlighting the interaction between GDM and the stage of gestation.It is...

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ey0020.10-1 | New Data on the Epidemiology of T2D in Children | ESPEYB20

10.1. Trends in incidence of youth-onset type 1 and type 2 diabetes in the USA, 2002-18: results from the population-based SEARCH for Diabetes in Youth study

LE Wagenknecht , JM Lawrence , S Isom , ET Jensen , D Dabelea , AD Liese , LM Dolan , AS Shah , A Bellatorre , K Sauder , S Marcovina , K Reynolds , C Pihoker , G Imperatore , J Divers , SEARCH for Diabetes in Youth Study Divers

Brief summary: The incidences of T1D and T2D in children and young people increased in the USA over the last 2 decades. For the first time, the incidence of T2D has surpassed that of T1D.Comment: The SEARCH study has served as a national resource to explore the epidemiology and consequences of diabetes in the US. Published over the years, the findings contribute to understanding future trends in other parts of the world. Overall, the current report shows...

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ey0021.8-12 | Clinical Trials – New Treatments | ESPEYB21

8.12. Ultradian hydrocortisone replacement alters neuronal processing, emotional ambiguity, affect and fatigue in adrenal insufficiency: the PULSES trial

G Russell , K Kalafatakis , C Durant , N Marchant , J Thakrar , R Thirard , J King , J Bowles , T Upton , NJ Thai , JCW Brooks , A Wilson , K Phillips , S Ferguson , M Grabski , CA Rogers , T Lampros , S Wilson , C Harmer , M Munafo , SL Lightman

Brief Summary: This 6-week randomized, crossover, double blind, placebo-controlled feasibility trial assessed the effect of subcutaneous pump hydrocortisone on the quality of life, mood, functional neuroimaging, behavioral/cognitive responses, sleep and metabolism in adults with primary adrenal insufficiency (PAI) compared to standard therapy.Comment: Adrenal glucocorticoid secretion is characterized by a complex diurnal variation, formed by changes in p...

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ey0021.11-10 | Genetic Risk Score and New Genes | ESPEYB21

11.10. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

Y Zhao , M Chukanova , KA Kentistou , Z Fairhurst-Hunter , AM Siegert , RY Jia , GKC Dowsett , EJ Gardner , K Lawler , FR Day , LR Kaisinger , YCL Tung , Lam B Yee Hong , HJC Chen , Q Wang , J Berumen-Campos , P Kuri-Morales , R Tapia-Conyer , J Alegre-Diaz , I Barroso , J Emberson , JM Torres , R Collins , D Saleheen , KR Smith , DS Paul , F Merkle , IS Farooqi , NJ Wareham , S Petrovski , S O'Rahilly , KK Ong , GSH Yeo , JRB Perry

Brief Summary: This exome-wide association study conducted in the UK Biobank cohort (n=454 787) and in two non-European cohorts, the Mexican MCPS cohort (n=141 046) and the Pakistani PGR cohort (n=37 800), identified a association between rare protein-truncating variants (PTVs) in the APBA1 and the BSN genes and adult-onset obesity, suggesting two new genes as possible causes for monogenic obesity. Rare PTVs in BSN were also associated with Type 2 di...

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ey0018.8-1 | Mechanism of the year: neuropeptide substance P regulates aldosterone secretion | ESPEYB18

8.1. The neuropeptide substance P regulates aldosterone secretion in human adrenals

J Wils , C Duparc , AF Cailleux , AG Lopez , C Guiheneuf , I Boutelet , HG Boyer , C Dubessy , S Cherifi , B Cauliez , F Gobet , G Defortescu , JF Menard , E Louiset , H Lefebvre

Nat Commun. 2020;11(1): 2673.https://pubmed.ncbi.nlm.nih.gov/32471973/The authors conducted an experimental study in male human volunteers to examine the effects of a neurokinin type 1 receptor (NK1R) antagonist on aldosterone secretion. The findings show the presence of Substance P (SP)-positive nerve fibres in the human adrenal cortex in the vicinity of aldosterone-producing cells and wit...

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ey0015.10-15 | Comorbidities – short and long-term complications | ESPEYB15

10.15 ACE inhibitors and statins in adolescents with T1DM

ML Marcovecchio , ST Chiesa , S Bond , D Daneman , S Dawson , KC Donaghue , TW Jones , FH Mahmud , SM Marshall , HAW Neil , RN Dalton , J Deanfield , DB Dunger , AdDIT Study Group

To read the full abstract: New Engl J Med 2017; 377:1733-1745We are still unable to reach treatment goals in all children and adolescents with T1DM. The usually earliest microvascular complication developed in adolescents and young adults is microalbuminuria. Therefore this trial focused on the prevention of microalbuminuria in high risk adolescents with an albumin-to-creatinine ratio in the uppe...

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ESPE Yearbook of Paediatric Endocrinology

4.3. Growth hormone treatment in the pre-transplant period is associated with superior outcome after pediatric kidney transplantation

2.12. Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy

8.10. Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert consensus statement

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

14.6. Altered steroidome in women with gestational diabetes mellitus: Focus on neuroactive and immunomodulatory steroids from the 24th week of pregnancy to labor

10.1. Trends in incidence of youth-onset type 1 and type 2 diabetes in the USA, 2002-18: results from the population-based SEARCH for Diabetes in Youth study

8.12. Ultradian hydrocortisone replacement alters neuronal processing, emotional ambiguity, affect and fatigue in adrenal insufficiency: the PULSES trial

11.10. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

8.1. The neuropeptide substance P regulates aldosterone secretion in human adrenals

10.15 ACE inhibitors and statins in adolescents with T1DM

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