Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by severe glucocorticoid deficiency associated with failure of adrenal responsiveness to ACTH but no mineralocorticoid deficiency. We report a 2 month-old boy of nonconsanguineous parents, presented with hy...

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Detalles Bibliográficos
Autores principales: Kim, Chan Jong, Woo, Young Jong, Kim, Gu Hwan, Yoo, Han Wook
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752790/
https://www.ncbi.nlm.nih.gov/pubmed/19795005
http://dx.doi.org/10.3346/jkms.2009.24.5.979

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752790/
https://www.ncbi.nlm.nih.gov/pubmed/19795005
http://dx.doi.org/10.3346/jkms.2009.24.5.979

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