Congenital Hypothyroidism due to Thyroid Dysgenesis: From Epidemiology to Molecular Mechanisms
| Autor: | Johnny Deladoey |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
medicine.medical_specialty
education.field_of_study biology Thyroid Population Apical membrane medicine.disease Thyroid dysgenesis Congenital hypothyroidism Thyroid dyshormonogenesis Endocrinology medicine.anatomical_structure Thyroid peroxidase Internal medicine medicine biology.protein education Hormone |
| Zdroj: | A New Look at Hypothyroidism |
| Popis: | Thyroid dyshormonogenesis results from a defect in any one of the steps involved in the biosynthesis of thyroid hormone, from the transport of iodine across the apical membrane to its intracellular recycling from monoand di-iodotyrosines. These defects are inherited as autosomal recessive traits and occur at higher frequency in consanguineous families. In population-based studies, mutations inactivating the thyroperoxidase gene (TPO)1-4 and the dual oxidase-like domains 2 gene (DUOX2; see www.endocrine-abstracts.org/ea/ 0020/ea0020s14.2.htm) seem to be the most commonly involved. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|