A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period

SUMMARY: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency due to T-box transcription factor-19 (TBX19 mutation) (MIM 201400; ORPHA 199296) usually presents in the neonatal period with severe hypoglycemia, seizures, and sometimes prolonged cholestatic jaundice. We report a case with...

Descripción completa

Detalles Bibliográficos
Autores principales: Vieira, Inês Henriques, Mourinho Bala, Nádia, Ramos, Fabiana, Dinis, Isabel, Cardoso, Rita, Caetano, Joana Serra, Rodrigues, Dírcea, Paiva, Isabel, Mirante, Alice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2022
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513655/
https://www.ncbi.nlm.nih.gov/pubmed/36070412
http://dx.doi.org/10.1530/EDM-22-0277

Ejemplares similares

Ejemplares similares