Thyroid Peroxidase Gene Mutations Causing Congenital Hypothyroidism in Three Turkish Families.

The article highlights congenital hypothyroidism in Turkey, where it has a prevalence of one in 2,736 newborns that is caused by the dysgenesis of the thyroid gland. A defect in thyroid peroxidase (TPO) is seen in most dyshormonogenesis, which has 60 known different mutations. In the study conducted by the authors of three Turkish families, they found that there are two different mutations of the TPO gene and a later genotyping of the polymorphic markers revealed that the families share a common haplotype.