Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess

American Journal of Medical Genetics, Part A

Volumn 161, Issue 1, 2013, Pages 214-217

  Kasahara, Toshihiko ^a,b   Narumi, Satoshi ^c   Okasora, Keisuke ^b   Takaya, Ryuzo ^d   Tamai, Hiroshi ^d   Hasegawa, Tomonobu ^c  

^a Department of Pediatrics   (Japan)

^b Hirakata Municipal Hospital   (Japan)

^c KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d OSAKA MEDICAL COLLEGE   (Japan)

Author keywords

Congenital hypothyroidism; DUOX2; False negative reactions; Iodine; Neonatal screening

Indexed keywords

ASPARTATE AMINOTRANSFERASE; DUAL OXIDASE 2 PROTEIN; IODINE; LEVOTHYROXINE; OXIDOREDUCTASE; THYROTROPIN; THYROXINE; UNCLASSIFIED DRUG;

ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CHILD; CONGENITAL HYPOTHYROIDISM; DUOX2 GENE; ECHOGRAPHY; FEMALE; FOOD INTAKE; GENE; GENE MUTATION; GESTATIONAL AGE; HORMONE SUBSTITUTION; HUMAN; HYPERBILIRUBINEMIA; HYPERTRANSAMINASEMIA; HYPOTHYROIDISM; JAUNDICE; MATERNAL NUTRITION; MUTATIONAL ANALYSIS; ONSET AGE; OVERNUTRITION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEAWEED; THYROID FUNCTION TEST; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; TREATMENT RESPONSE; WEIGHT GAIN;

ALLELES; CHILD; CONGENITAL HYPOTHYROIDISM; DIETARY SUPPLEMENTS; FEMALE; HUMANS; INFANT, NEWBORN; IODINE; MUTATION; NADPH OXIDASE; NEONATAL SCREENING; PHENOTYPE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL EXPOSURE DELAYED EFFECTS; SEAWEED; THYROXINE;

EID: 84871677308     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35693     Document Type: Article

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