ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 19 of about 292 results

ey0019.6-1 | Sex Hormone Replacement Therapies in DSD | ESPEYB19

6.1. Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

A Nordenstrom , SF Ahmed , den Akker E van , J Blair , M Bonomi , C Brachet , LHA Broersen , der Grinten HL Claahsen-van , AB Dessens , A Gawlik , CH Gravholt , A Juul , C Krausz , T Raivio , A Smyth , P Touraine , D Vitali , OM Dekkers

Eur J Endocrinol. 2022 Apr 21;186(6):G9-G49. PMID: 35353710, doi: 10.1530/EJE-22-0073.Brief Summary: This Endo-European Reference Network guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology, and the European Academy of Andrology. It provides extensive data on the hormonal management in young individuals with hypogonadism or DSD in nee...
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ey0019.9-12 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.12. Pregnancy and pregnancy outcomes after hematopoietic stem cell transplantation in childhood: a cross-sectional survey of the EBMT pediatric diseases working party

T Diesch-Furlanetto , A Rovo , JE Galimard , G Szinnai , A Dalissier , P Sedlacek , I Bodova , VK Roussou , BE Gibson , X Poire , F Fagioli , H Pichler , M Faraci , FG Gumy-Pause , JH Dalle , A Balduzzi , P Bader , S Corbacioglu

tamara.diesch@ukbb.ch.Hum Reprod. 2021; 36: 2871-82. PMID: 34529796.Brief Summary: This retrospective study of the European Society for Blood and Marrow Transplantation (EBMT) registry describes the natural or assisted conceptions and their outcomes in patients <18-year-old at their first transplantation who received hematopoietic stem cell transplantation (HSCT) between 1995 and 2016. <p class=...
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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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ey0019.10-7 | New paradigms | ESPEYB19

10.7. Circulating C-peptide levels in living children and young people and pancreatic beta cell loss in pancreas donors across type 1 diabetes disease duration

ALJ Carr , JRJ Inshaw , CS Flaxman , P Leete , RC Wyatt , LA Russell , M Palmer , D Prasolov , T Worthington , B Hull , LS Wicker , DB Dunger , RA Oram , NG Morgan , JA Todd , SJ Richardson , REJ Besser

Diabetes. 2022;71:1591-1596. https://pubmed.ncbi.nlm.nih.gov/35499624/Brief Summary: This cross-sectional study compared trends in plasma C-peptide decline in 4,076 young people with type 1 diabetes (T1D), with trends in beta-cell loss in 235 pancreas donors. As expected, C-peptide declined over time, and this was particularly marked in children with T1D younger than 7 years. Of interest, p...
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ey0019.12-4 | New data on complications of children with T2DM | ESPEYB19

12.4. Insulinopathies of the brain? Genetic overlap between somatic insulin-related and neuropsychiatric disorders

J. Fanelli G, Franke B, De Witte W, Ruisch IH, Haavik J, van Gils V, Jansen WJ, Vos SJB, Lind L, Buitelaar JK, Banaschewski T, Dalsgaard S, Serretti A, Mota NR, Poelmans G, Bralten

Translational psychiatry 2022;12(1):59. doi: 10.1038/s41398-022-01817-0Brief Summary: This population genetics study explored pairwise genome-wide genetic correlations between neuropsychiatric disorders with insulin-related somatic diseases and traits. There were likely protective effects of obsessive-compulsive disorder and anorexia nervosa on the risks of having MetS, obesity and T2DM; i...
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ey0019.13-13 | Endocrinology | ESPEYB19

13.13. Nutrition in adolescent growth and development

SA Norris , EA Frongillo , MM Black , Y Dong , C Fall , M Lampl , AD Liese , M Naguib , A Prentice , T Rochat , CB Stephensen , CB Tinago , KA Ward , SV Wrottesley , GC Patton

shane.norris@wits.ac.za Lancet 2022; 399: 172–84. doi: 10.1016/S0140-6736(21)01590-7Brief Summary: This review found that the role of nutrition on adolescent growth and development has been poorly studied. Adolescence is a nutrition-sensitive phase for growth, in which the benefits of good nutrition extend to many other physiological sys...
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ey0017.1-3 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.3. Mutations in LAMB2 are associated with albuminuria and optic nerve hypoplasia with hypopituitarism

Tahoun Mona , Chandler Jennifer C , Ashton Emma , Haston Scott , Hannan Athia , Kim Ji Soo , D’Arco Felipe , Bockenhauer D , Anderson G , Lin Meei-Hua , Marzouk Salah , Saied Marwa H , Miner Jeffrey H , Dattani Mehul T , Waters Aoife M

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3). pii: dgz216. doi: 10.1210/clinem/dgz216. PMID: 31769495.Septo-optic dysplasia (SOD) involves a combination of midline brain defects, pituitary hormone deficiency, and optical nerve hypoplasia. The etiology of SOD is multifaceted; genetic factors are known to play a role, yet the vast majority of SOD patients remain withou...
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ey0017.3-6 | Congenital hypothyroidism | ESPEYB17

3.6. Neonatal screening for congenital hypothyroidism: what can we learn from discordant twins?

E Medda , MC Vigone , A Cassio , F Calaciura , P Costa , G Weber , T de Filippis , G Gelmini , M Di Frenna , S Caiulo , R Ortolano , D Rotondi , M Bartolucci , R Gelsomino , S De Angelis , M Gabbianelli , L Persani , A Olivieri

To read the full abstract: J Clin Endocrinol Metab. 2019;104:5765–5779.It is not clear whether retesting is needed for a healthy cotwin of a twin pair discordant for congenital hypothyroidism (CH) at the first neonatal screening. Medda et al. retrospectively analyzed a cohort of 47 twin pairs discordant for CH at the first neonatal screening. On follow-up, 7 (15%) of cotwins who were initially negatively screened then tested positi...
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ey0017.8-5 | Important for Clinical Practice | ESPEYB17

8.5. Exposure to glucocorticoids in the first part of fetal life is associated with insulin secretory defect in adult humans

JP Riveline , B Baz , JL Nguewa , T Vidal-Trecan , F Ibrahim , P Boudou , E Vicaut , A Brac de la Perriere , S Fetita , B Breant , B Blondeau , V Tardy-Guidollet , Y Morel , JF Gautier

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgz145. PMID: 31665349.Prenatal treatment with glucocorticoids (GC) is used in several clinical indications. However, the long-term outcome on offspring metabolic, somatic and cognitive health has raised significant concern. In rodents, high glucocorticoid levels inhibit development of beta cells during fetal life and lead to...
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ey0017.14-7 | (1) | ESPEYB17

14.7. Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication

M Zanella , A Vitriolo , A Andirko , PT Martins , S Sturm , T O’Rourke , M Laugsch , N Malerba , A Skaros , S Trattaro , PL Germain , M Mihailovic , G Merla , A Rada-Iglesias , C Boeckx , G. Testa

To read the full abstract: Science Advances 2019;5:eaaw7908This paper shows that the craniofacial and cognitive/behavioral phenotypes caused by alterations at the critical gene region for the Williams-Beuren syndrome is caused by changes in the chromatin remodeler BAZ1B in neural crest, and can serve as an entry point into the evolution of the modern human face and pro-sociality.Williams-Beuren syndrome is caused ...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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