Cargando…
Recent advances in research on isolated congenital central hypothyroidism
Congenital central hypothyroidism (C-CH) is caused by defects in the secretion of thyrotropin-releasing hormone (TRH) and/or TSH, leading to an impairment in the release of hormones from the thyroid. The causes of C-CH include congenital anomalies of the hypothalamic-pituitary regions and several ge...
Autores principales: | Tajima, Toshihiro, Nakamura, Akie, Oguma, Makiko, Yamazaki, Masayo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646241/ https://www.ncbi.nlm.nih.gov/pubmed/31384098 http://dx.doi.org/10.1297/cpe.28.69 |
Ejemplares similares
-
Two siblings with congenital central hypothyroidism caused by a novel
mutation in the IGSF1 gene
por: Oguma, Makiko, et al.
Publicado: (2018) -
Neonatal screening and a new cause of congenital central hypothyroidism
por: Tajima, Toshihiro, et al.
Publicado: (2014) -
A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1
(IGSF1) associated with congenital hypogonadotropic hypogonadism and central
hypothyroidism
por: Tajima, Toshihiro, et al.
Publicado: (2022) -
Recent advances in central congenital hypothyroidism
por: Schoenmakers, Nadia, et al.
Publicado: (2015) -
Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ
por: Batjargal, Khishigjargal, et al.
Publicado: (2022)