Cargando…
Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene
Congenital central hypothyroidism (CCH) is a rare condition occurring in 1 : 20000 to 1 : 50000 newborns. As TSH plasma levels are low, CCH is usually not detected by TSH-based neonatal screening for hypothyroidism, and, as a result, diagnosis is often delayed putting affected children at risk for d...
Autores principales: | Grünert, Sarah Catharina, Schmidts, Miriam, Pohlenz, Joachim, Kopp, Matthias Volkmar, Uhl, Markus, Schwab, Karl Otfried |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350182/ https://www.ncbi.nlm.nih.gov/pubmed/22606512 http://dx.doi.org/10.1155/2011/369871 |
Ejemplares similares
-
Predictors of transient congenital primary hypothyroidism: data from the German registry for congenital hypothyroidism (AQUAPE “HypoDok”)
por: Matejek, Nicola, et al.
Publicado: (2021) -
Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland
por: Nicholas, A.K., et al.
Publicado: (2016) -
The relation between serum and filter paper TSH level in neonates with congenital hypothyroidism
por: Ayyad, Ali Hassan, et al.
Publicado: (2014) -
Severe Congenital Hypothyroidism Due to a Novel Deep Intronic Mutation in the TSH Receptor Gene Causing Intron Retention
por: Larrivée-Vanier, Stéphanie, et al.
Publicado: (2020) -
Congenital Hypothyroidism Screening in Term Neonates using Umbilical Cord Blood TSH Values
por: Bhatia, Ravi, et al.
Publicado: (2018)