MON-175 Structural Instability as an Underlying Pathomechanism in Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting key enzymes of cortisol biosynthesis. In the majority of cases the underlying cause are detrimental mutations in the steroidogenic cytochrome P450 enzyme 21-hydroxylase (CYP21A2). Early diagnosis via newborn s...

Descripción completa

Detalles Bibliográficos
Autores principales: Meese, Nicolas, Paul, Pallabi Sil, Haslbeck, Martin, Huebner, Angela, Reisch, Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Adrenal
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207553/
http://dx.doi.org/10.1210/jendso/bvaa046.1021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207553/
http://dx.doi.org/10.1210/jendso/bvaa046.1021

Ejemplares similares