Adrenocorticotropic hormone deficiency [Supplementary Concept]

A congenital autosomal recessive form of adrenal insufficiency that is characterized by very low plasma ACTH and CORTISOL levels with no significant response to CORTICOTROPIN-RELEASING HORMONE. Affected neonatal patients may present with OBSTRUCTIVE JAUNDICE, severe HYPOGLYCEMIA, and SEIZURES. Mutations in the TBX19 gene have been identified. OMIM: 201400

MeSH Unique ID: C535668

Heading Mapped to:

• Adrenal Insufficiency