Article
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
The Journal of clinical endocrinology and metabolism - 1 Jul 2006
Pfarr Nicole, Borck Guntram, Turk Andrew, Napiontek Ulrike, Keilmann Annerose, Müller-Forell Wibke, Kopp Peter, Pohlenz Joachim
Abstract excerpt
CONTEXT: Pendred syndrome (PS) and thyroid peroxidase (TPO) deficiency are autosomal-recessive disorders that result in thyroid dyshormonogenesis. They share congenital hypothyroidism, goiter, and an iodide organification defect as common features. Whereas the hallmark of PS is sensorineural deafness, other forms of congenital hypothyroidism may also lead to hearing impairment. Therefore, a definite diagnosis may...
Topics
- Congenital Hypothyroidism
- Genotype
- Goiter
- Hearing Loss
- Heterozygote
- Humans
- Infant, Newborn
- Iodide Peroxidase
- Male
- Membrane Transport Proteins
- Mutation, Missense
- Pedigree
- Sulfate Transporters