Abstract Search

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. 2021:387419. 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

ey0020.1-8 | Genetics | ESPEYB20

1.8. The severity of congenital hypothyroidism with gland-in-situ predicts molecular yield by targeted NGS

L Levaillant , N Bouhours-Nouet , F Illouz , JA Jager , A Bachelot , P Barat , S Baron , C Bensignor , AB De La Perriere , YB Djellas , M Caillot , E Caldagues , MN Campas , M Caquard , A Cartault , J Cheignon , A Decrequy , B Delemer , K Dieckmann , A Donzeau , E Doye , M Fradin , M Gaudilliere , F Gatelais , M Gorce , I Hazart , N Houcinat , L Houdon , M Ister-Salome , L Jozwiak , P Jeannoel , F Labarthe , D Lacombe , AS Lambert , C Lefevre , B Leheup , C Leroy , B Maisonneuve , I Marchand , E Marquant , M Muszlak , L Pantalone , S Pochelu , C Quelin , C Radet , P Renoult-Pierre , R Reynaud , S Rouleau , C Teinturier , J Thevenon , C Turlotte , A Valle , M Vierge , C Villanueva , A Ziegler , X Dieu , N Bouzamondo , P Rodien , D Prunier-Mirebeau , R Coutant

Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based on these data, diagnostic yield was higher in patients with gland-in-situ, than with thyroid dysgenesis. Further studies performed NGS only in cohorts of patients with gland-in-situ, excluding thyroid dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication of Levaillant ...

0 shares

ESPE Yearbook of Paediatric Endocrinology

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

1.8. The severity of congenital hypothyroidism with gland-in-situ predicts molecular yield by targeted NGS

BiosciAbstracts