Ontology highlight
ABSTRACT:
SUBMITTER: Cangul H
PROVIDER: S-EPMC4677561 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Cangül Hakan H Demir Korcan K Babayiğit H Ömür HÖ Abacı Ayhan A Böber Ece E
Journal of clinical research in pediatric endocrinology 20150901 3
Congenital hypothyroidism (CH) occurs with a prevalence of approximately 1:4000 live births. Defects of thyroid hormone synthesis account for 15-20% of these cases. Thyroid peroxidase (TPO) gene is the most common cause for dyshormonogenesis. So far, more than 60 mutations in the TPO gene have been described, resulting in a variable decrease in TPO bioactivity. We present an 8-day-old male with mild CH who was identified to have a G to A transition in the fifth codon of the TPO gene (c.13G>A; p. ...[more]