Abstract Search

ey0017.3-7 | Congenital hypothyroidism | ESPEYB17

3.7. DUOX2/DUOXA2 mutations frequently cause congenital hypothyroidism that evades detection on newborn screening in the UK

C Peters , AK Nicholas , E Schoenmakers , G Lyons , S Langham , EG Serra , NJ Sebire , M Muzza , L Fugazzola , N Schoenmakers

To read the full abstract: Thyroid. 2019;29:790801.Patients with mutations in the dual oxidase 2 (DUOX2 ) gene encoding a NADPH oxidase that generates hydrogen peroxidase for iodide organification have been repeatedly reported as not being detected by neonatal screening because it causes only mild hyperthyrotropinemia at birth. Here, Peters et al. determined the incidence of DUOX2 and dual oxidase 2...

0 shares

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...

0 shares

ESPE Yearbook of Paediatric Endocrinology

3.7. DUOX2/DUOXA2 mutations frequently cause congenital hypothyroidism that evades detection on newborn screening in the UK

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

BiosciAbstracts