ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 16 of about 1137 results

ey0018.11-4 | New hope: Increased diagnostic yield for disease causing MC4R variants and pharmacological treatment options | ESPEYB18

11.4. Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort

KH Wade , BYH Lam , A Melvin , W Pan , LJ Corbin , DA Hughes , K Rainbow , JH Chen , K Duckett , X Liu , J Mokrosiński , A Morseburg , S Neaves , A Williamson , C Zhang , IS Farooqi , GSH Yeo , NJ Timpson , S O'Rahilly

Nat Med, 2021 Jun;27(6):1088–1096. 10.1038/s41591-021-01349-y. https://pubmed.ncbi.nlm.nih.gov/34045736/This paper reports the high prevalence of MC4R loss-of-function (LoF) variants in a normal population and their large impact on longitudinally assessed anthropometric traits from birth to young adult life.Th...
0 shares

ey0020.4-8 | Risk for Gonadal Malignancy and Gonadectomy in DSD | ESPEYB20

4.8. Consensus guide on prophylactic gonadectomy in different sex development

J Guerrero-Fernandez , P Gonzalez-Peramato , A Rodriguez Estevez , MJ Alcazar Villar , L Audi Parera , MC Azcona San Julian , A Carcavilla Urqui , LA Castano Gonzalez , JM Martos Tello , C Mora Palma , MF Moreno Macian , D Yeste Fernandez , M Nistal

Brief summary: This review article offers an update on knowledge on prophylactic gonadectomy in differences of sex development (DSDs) and evaluates the latest existing clinical evidence, which is generally limited, on risk of gonadal neoplasia potential in each group of DSDs.On average 15% of DSD patients with Y chromosome material predispose to gonadal neoplasms especially gonadal germ cell tumors (GGCTs); the overall risk ranges between 0.8% and 40% de...
0 shares

ey0019.8-8 | Clinical Trials – New Treatments | ESPEYB19

8.8. Crinecerfont lowers elevated hormone markers in adults with 21-hydroxylase deficiency congenital adrenal hyperplasia

AR Auchus , K Sarafoglou , PY Fechner , MG Vogiatzi , EA Imel , SM Davis , N Giri , J Sturgeon , E Roberts , JL Chan , RH Farber

J Clin Endocrinol Metab. 2022; 107(3): 801-812. PMID: 34653252 https://pubmed.ncbi.nlm.nih.gov/34653252/Brief Summary: This clinical trial evaluated the safety and efficacy of crinecerfont, a CRF1R antagonist, in suppressing adrenal androgen secretion in adult patients with classic congenital adrenal hyperplasia (CAH) during a treatment period of 14 days.Class...
0 shares

ey0020.1-5 | Follow-up Paper from the 2022 Yearbook | ESPEYB20

1.5. Evaluation of the molecular landscape of pediatric thyroid nodules and use of a multigene genomic classifier in children

JN Gallant , SC Chen , CA Ortega , SL Rohde , RH Belcher , JL Netterville , N Baregamian , H Wang , J Liang , F Ye , YE Nikiforov , MN Nikiforova , VL Weiss

Brief summary: In 2021 and 2022, two important publications on pediatric thyroid carcinomas revealed a distinct molecular landscape compared to adult thyroid carcinomas (1,2). Pediatric differentiated thyroid carcinoma was mainly caused by fusion oncogenes, especially in children younger than 10 years (93%), compared to children aged 10–15 years (28%) and 15–20 years old patients (14%). In contrast, PTC due to BRAF mutations showed increasing frequency with age (7%, ...
0 shares

ey0021.6-12 | Gender Incongruence - Hormone Treatment Continuation | ESPEYB21

6.12. Reidentification with birth-registered sex in a Western Australian pediatric gender clinic cohort

BS Cavve , X Bickendorf , J Ball , LA Saunders , CS Thomas , P Strauss , G Chaplyn , L Marion , A Siafarikas , U Ganti , A Wiggins , A Lin , JK Moore

Brief Summary: This retrospective cohort study investigated referral closures due to reidentification with birth-registered sex at the Child and Adolescent Health Service Gender Diversity Service in Perth, the sole provider of gender-affirming medical treatment for individuals <18 years in Western Australia. Out of 548 referral closures, 29 reidentified with birth-registered sex. Only 2 did so after having started medical treatment, constituting 1.2% (95% CI, 0.1%-4.4%) of...
0 shares

ey0018.3-8 | Congenital hypothyroidism | ESPEYB18

3.8. Congenital hypothyroidism: A 2020-2021 consensus guidelines update-An ENDO-European Reference Network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

P van Trotsenburg , A Stoupa , J Leger , T Rohrer , C Peters , L Fugazzola , A Cassio , C Heinrichs , V Beauloye , J Pohlenz , P Rodien , R Coutant , G Szinnai , P Murray , B Bartes , D Luton , M Salerno , L de Sanctis , M Vigone , H Krude , L Persani , M Polak

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...
0 shares

ey0018.3-13 | Clinical studies | ESPEYB18

3.13. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

S Groeneweg , FS van Geest , A Abacı , A Alcantud , GP Ambegaonkar , CM Armour , P Bakhtiani , D Barca , ES Bertini , IM van Beynum , N Brunetti-Pierri , M Bugiani , M Cappa , G Cappuccio , B Castellotti , C Castiglioni , K Chatterjee , IFM de Coo , R Coutant , D Craiu , P Crock , C DeGoede , K Demir , A Dica , P Dimitri , A Dolcetta-Capuzzo , MHG Dremmen , R Dubey , A Enderli , J Fairchild , J Gallichan , B George , EF Gevers , A Hackenberg , Z Halasz , B Heinrich , T Huynh , A Kłosowska , MS van der Knaap , MM van der Knoop , D Konrad , DA Koolen , H Krude , A Lawson-Yuen , J Lebl , M Linder-Lucht , CF Lorea , CM Lourenco , RJ Lunsing , G Lyons , J Malikova , EE Mancilla , A McGowan , V Mericq , FM Lora , C Moran , KE Muller , I Oliver-Petit , L Paone , PG Paul , M Polak , F Porta , FO Poswar , C Reinauer , K Rozenkova , TS Menevse , P Simm , A Simon , Y Singh , M Spada , J van der Spek , MAM Stals , A Stoupa , GM Subramanian , D Tonduti , S Turan , CA den Uil , J Vanderniet , A van der Walt , JL Wemeau , J Wierzba , MY de Wit , NI Wolf , M Wurm , F Zibordi , A Zung , N Zwaveling-Soonawala , WE Visser

Lancet Diabetes Endocrinol. 2020;8:594–605. doi: 10.1016/S2213-8587(20)30153-4.Groenenweg et al. present the so far largest retrospective multicentre cohort study on 151 patients with 73 different MCT8 (SLC16A2) mutations to compare and describe in detail the phenotypic spectrum and the disease course of MCT8 deficiency. The careful description of presenting cl...
0 shares

ey0018.4-13 | New Paradigms | ESPEYB18

4.13 A Genome-wide pharmacogenetic study of growth hormone responsiveness

A Dauber , Y Meng , L Audi , S Vedantam , B Weaver , A Carrascosa , K Albertsson-Wikland , M Ranke , A Jorge , J Cara , MP Wajnrajch , A Lindberg , C Camacho-Hübner , JN Hirschhorn

J Clin Endocrinol Metab. 2020;105:3203–3214. doi: 10.1210/clinem/dgaa443. PMID: 32652002The authors performed a large genome-wide association study (GWAS) to assess the role of common genetic variants in the response to GH therapy. A total of 614 children treated with GH were included: 276 with idiopathic GHD, 297 with ISS, and 41 born SGA. The findings implicate some novel mechanisms...
0 shares

ey0017.1-2 | Update on the Genetics of Hypopituitarism | ESPEYB17

1.2. Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis

LC Gregory , P Shah , JRF Sanner , M Arancibia , J Hurst , WD Jones , H Spoudeas , P Le Quesne Stabej , HJ Williams , LA Ocaka , C Loureiro , A Martinez-Aguayo , MT Dattani

To read the full abstract: J Clin Endocrinol Metab. 2019 Dec 1;104(12):5737–5750. doi: 10.1210/jc.2019-00631. PMID: 31504653.This paper describes two genes and three syndromes that clinicians would probably like to know when treating patients with a syndromic form of panhypopituitarism. Heterozygous mutation in a maternally imprinted gene, MAGEL2, was described in four patients...
0 shares

ey0017.11-10 | Body Weight Regulation and Insulin Sensitivity | ESPEYB17

11.10. The [beta]3-adrenergic receptor agonist mirabegron improves glucose homeostasis in obese humans

BS Finlin , H Memetimin , B Zhu , AL Confides , HJ Vekaria , RH El Khouli , ZR Johnson , PM Westgate , J Chen , AJ Morris , PG Sullivan , EE Dupont-Versteegden , PA Kern

To read the full abstract: J Clin Invest. 2020;130(5):2319–2331.This clinical study assessed the effect of the β3-adrenergic agonist mirabegron on glucose homeostasis in obese individuals.Chronic activation of β3-receptors in mice leads to the appearance of brown-like (e.g. ‘beige’) adipocytes in white adipose tissue, a process referred to as ...
0 shares

Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 | Privacy policy | Cookie settings

BiosciAbstracts

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more