6533b835fe1ef96bd129ea39
RESEARCH PRODUCT
Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations.
S. Fricke-ottoR. WentzellK. AltmannJoachim PohlenzR. MühlenbergPia Hermannssubject
AdultMaleendocrine systemmedicine.medical_specialtyendocrine system diseasesEndocrinology Diabetes and MetabolismMutation MissenseGene mutationmedicine.disease_causeCompound heterozygosityAutoantigensIodide Peroxidasefluids and secretionsEndocrinologyThyroid dyshormonogenesisThyroid peroxidaseInternal medicineGermanyIron-Binding ProteinsInternal MedicinemedicineCongenital HypothyroidismMissense mutationHumansFamilyMutationbiologybusiness.industryGoiterPrimary hypothyroidismInfant Newbornfood and beveragesGeneral MedicineExonsmedicine.diseaseCongenital hypothyroidismEndocrinologyembryonic structuresbiology.proteinFemalebusinessdescription
Congenital hypothyroidism occurs with a prevalence of approximately 1:3 500. Defects in thyroid hormone synthesis which lead to goitrous hypothyroidism account for 10-15% of these cases. Several genetic defects have been characterized and mutations in the thyroid peroxidase (TPO) gene are the most common cause for dyshormonogenesis.So far, more than 80 mutations in the TPO gene have been described, resulting in a variable decrease in TPO bioactivity. Clinically TPO defects manifest with congenital primary goitrous hypothyroidism.We here present 2 children with congenital primary hypothyroidism, who were identified to have compound heterozygous TPO mutations. They both shared the same novel mutation in the TPO gene (C756R) in exon 13. One case presented with an apparently dominant inheritance of thyroid dyshormonogenesis.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2013-03-21 | Experimental and clinical endocrinologydiabetes : official journal, German Society of Endocrinology [and] German Diabetes Association |