title: Molecular pathogenesis of neonatal hypothyroidism.
abstract: In patients with congenital hypothyroidism (CH), the autosomal recessive inheritance of mutations of thyroid peroxidase, thyroglobulin and the NIS and pendrin genes encoding for sodium iodide transporters has been identified. CH due to thyroid dysgenesis was considered to be a sporadic disease, but recently, inheritable defects of thyroid development have been described. The autosomal recessive inheritance of mutations of the thyroid-stimulating hormone receptor gene was recognized in patients with CH and thyroid hypoplasia, while autosomal dominant mutations of the Pax-8 gene were described in patients with thyroid dysgenesis. In addition, analysis of mutations of the beta-thyrotropin gene has resulted in a new understanding of the pathogenesis of central CH. Molecular genetic studies in patients with CH detected by newborn screening will provide the information necessary for genetic counselling and may help to explain the less favourable outcome present in 5-10% of the patients.
authors.affiliation: Department of Pediatrics, Charité University Hospital, Humboldt University, Berlin, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Krude
authors.forename: H
authors.initials: H
authors.lastname: Biebermann
authors.forename: D
authors.initials: D
authors.lastname: Schnabel
authors.forename: P
authors.initials: P
authors.lastname: Ambrugger
authors.forename: A
authors.initials: A
authors.lastname: Grüters
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D003409:Congenital Hypothyroidism; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007231:Infant, Newborn; D007453:Iodide Peroxidase / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D026901:Membrane Transport Proteins; D009154:Mutation; D011989:Receptors, Thyrotropin / Q000235:genetics; D000076988:Sulfate Transporters; D027981:Symporters; D013954:Thyroglobulin / Q000235:genetics; D013972:Thyrotropin / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D000099209:Sodium-Iodide Symporters
chemical_list: D002352:Carrier Proteins; D007453:Iodide Peroxidase; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D011989:Receptors, Thyrotropin; D000076988:Sulfate Transporters; D027981:Symporters; D013954:Thyroglobulin; D013972:Thyrotropin; D014157:Transcription Factors; D000099209:Sodium-Iodide Symporters; C085609:SLC26A4 protein, human