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ey0016.3-8 | Congenital Hypothyroidism | ESPEYB16

3.8. Newborn screening for primary congenital hypothyroidism: estimating test performance at different TSH thresholds

RL Knowles , J Oerton , T Cheetham , G Butler , C Cavanagh , L Tetlow , C Dezateux

To read the full abstract: J Clin Endocrinol Metab. 2018;103:372028.This nationwide prospective surveillance study aimed to estimate the performance of the current UK recommended TSH threshold (10 mU/L on day 5 after birth) for newborn blood spot screening compared to lower thresholds: 8 mU/L and 6 mU/L. Over a 12-month period, the authors included all patients with positive TSH ba...

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ey0016.3-13 | Graves’ Disease | ESPEYB16

3.13. Adjuvant rituximab, a potential treatment for the young patient with Graves' hyperthyroidism (RiGD): study protocol for a single-arm, single-stage, phase II trial

M Cole , AM Hynes , D Howel , L Hall , M Abinun , A Allahabadia , T Barrett , K Boelaert , AJ Drake , P Dimitri , J Kirk , N Zammitt , S Pearce , T Cheetham

To read the full abstract: BMJ Open. 2019;9:e024705.This protocol paper describes an innovative phase II trial to study the effect of a single low dose of adjuvant rituximab (a chimeric anti-B-cell monoclonal antibody targeting the surface molecule CD20) compared to classical carbimazole therapy in adolescents and young adults with Graves disease. Carbimazole treatment will be stop...

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ey0019.15-3 | Obesity | ESPEYB19

15.3. Obesity-associated GNAS mutations and the melanocortin pathway

E Mendes de Oliveira , JM Keogh , F Talbot , E Henning , R Ahmed , A Perdikari , R Bounds , N Wasiluk , V Ayinampudi , I Barroso , J Mokrosinski , D Jyothish , S Lim , S Gupta , M Kershaw , C Matei , P Partha , T Randell , A McAulay , LC Wilson , T Cheetham , EC Crowne , P Clayton , IS Farooqi

N Engl J Med. 2021;385(17):1581-92. doi: 10.1056/NEJMoa2103329.PubMed ID: 34614324Brief Summary: The authors performed whole exome sequencing in 2548 children with severe obesity and identified 22 GNAS mutation carriers, almost all of which disrupted melanocortin 4 receptor (MC4R) signaling.The gene GNAS encodes the stimulatory G-protein alpha subunit pr...

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ESPE Yearbook of Paediatric Endocrinology

3.8. Newborn screening for primary congenital hypothyroidism: estimating test performance at different TSH thresholds

3.13. Adjuvant rituximab, a potential treatment for the young patient with Graves' hyperthyroidism (RiGD): study protocol for a single-arm, single-stage, phase II trial

15.3. Obesity-associated GNAS mutations and the melanocortin pathway

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