Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2

Atsuko Yoshizawa-Ogasawara, Kiyomi Abe, Sayaka Ogikubo, Satoshi Narumi, Tomonobu Hasegawa, Mari Satoh

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7 Citations (Scopus)


Here, we describe three cases of loss-of-function mutations in the nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase (NOX) domain of dual oxidase 2 (DUOX2) occurring along with concurrent missense mutations in thyroid peroxidase (TPO), leading to transient congenital hypothyroidism (CH). Three Japanese boys with nonconsanguineous parents were diagnosed with CH during their neonatal screenings. All patients presented with moderate-to-severe neonatal hypothyroidism and were diagnosed with transient CH after re-evaluation of thyroid function. Two siblings were compound heterozygous for p.[R1110Q]+[Y1180X] in DUOX2; one of them was also heterozygous for p.[R361L] in TPO. The third patient was compound heterozygous for p.[L1160del]+[R1334W] in DUOX2 and heterozygous for p.[P883S] in TPO. This is the first report of a de novo L1160del mutation affecting the DUOX2 gene and of the novel mutations Y1180X in DUOX2 and R361L in TPO. R1110Q and L1160del were found to reduce H2O2 production (5%-9%, p2O2 production (-0.7%±0.6%, p2O2 production (24%±0.9%, p

Original languageEnglish
Pages (from-to)363-371
Number of pages9
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number3
Publication statusPublished - 2016 Mar 1



  • dual oxidase 2 (DUOX2)
  • loss-of-function mutation
  • NADPH-oxidase (NOX) domain
  • thyroid peroxidase (TPO)
  • transient congenital hypothyroidism

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health

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