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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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ey0016.3-11 | New Genes | ESPEYB16

3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

H Cangul , XH Liao , E Schoenmakers , J Kero , S Barone , P Srichomkwun , H Iwayama , EG Serra , H Saglam , E Eren , O Tarim , AK Nicholas , I Zvetkova , CA Anderson , FEK Frankl , K Boelaert , M Ojaniemi , J Jaaskelainen , K Patyra , C Lof , ED Williams , Consortium UK10K , M Soleimani , T Barrett , ER Maher , VK Chatterjee , S Refetoff , N Schoenmakers

To read the full abstract: JCI Insight. 2018 Oct 18;3(20). pii: 99631.This paper describes a new form of goitrous congenital hypothyroidism associated with mutations in the solute carrier family 26 member 7 gene (SLC26A7) in 6 unrelated families. In patients, a partial iodide organification defect (PIOD) with normal iodide uptake was observed, hence these mutations cause a new f...

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ey0016.3-5 | Thyroid and Pregnancy | ESPEYB16

3.5. Levothyroxine in women with thyroid peroxidase antibodies before conception

RK Dhillon-Smith , LJ Middleton , KK Sunner , V Cheed , K Baker , S Farrell-Carver , R Bender-Atik , R Agrawal , K Bhatia , E Edi-Osagie , T Ghobara , P Gupta , D Jurkovic , Y Khalaf , M MacLean , C McCabe , K Mulbagal , N Nunes , C Overton , S Quenby , R Rai , N Raine-Fenning , L Robinson , J Ross , A Sizer , R Small , A Tan , M Underwood , MD Kilby , K Boelaert , J Daniels , S Thangaratinam , SY Chan , A Coomarasamy

To read the full abstract: N Engl J Med. 2019;380:13161325.This large multicenter randomized double-blind placebo-controlled trial, in euthyroid women with thyroid peroxidase antibodies and a history of miscarriage or infertility, found no effect of levothyroxine substitution from before conception to the end of pregnancy on likelihood of live birth.In 2011, ...

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ESPE Yearbook of Paediatric Endocrinology

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

3.11. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

3.5. Levothyroxine in women with thyroid peroxidase antibodies before conception

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