Adrenocorticotropic Hormone Deficiency (TBX19)

Adrenocorticotropic hormone deficiency is a rare, congenital, autosomal recessive disorder caused by pathogenic variants in the gene TBX19. The age of onset is typically in infancy. It is characterized by severe hypoglycemia (low blood glucose level), seizures, jaundice, and very low plasma adrenocorticotropic hormone (ACTH) levels. Clinical manifestations may also include weight loss, lack of appetite, weakness, nausea, vomiting, and low blood pressure. Life expectancy depends on the severity of the clinical manifestations. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):