[Idiopathic hypoparathyroidism due to abnormalities in parathyroid organogenesis].
Recent advance in mouse genomics has provided us lots of information concerning genes playing critical roles during organogenesis of parathyroid gland. And human counterparts of murine hypoparathyroidism produced by gene manipulation have been identified. Large part of genes which is responsible for hypoparathyroidism consisted from transcription factors such as TBX1, GATA3, SOX3. This may contribute to the abnormalities in the other organogenesis. Systematic survey of the anomalies in face and the other organ is important to confirm the diagnosis. And people should keep in mind that PTH could not be produced only in parathyroid in parathyroid agenesis.
Tanaka
Hiroyuki
H
Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Japan.
D000818:Animals; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004268:DNA-Binding Proteins; D050990:GATA3 Transcription Factor; D006609:High Mobility Group Proteins; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis / Q000209:etiology*; D051379:Mice; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D038081:Organogenesis / Q000235:genetics*; D010280:Parathyroid Glands / Q000196:embryology*; D055748:SOXB1 Transcription Factors; D020825:T-Box Domain Proteins; D014157:Transcription Factors / Q000235:genetics
D004268:DNA-Binding Proteins; D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human; C119532:GCM2 protein, human; D006609:High Mobility Group Proteins; D009687:Nuclear Proteins; C527785:SOX3 protein, human; D055748:SOXB1 Transcription Factors; C527786:Sox3 protein, mouse; D020825:T-Box Domain Proteins; C108625:TBX1 protein, human; D014157:Transcription Factors