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Congenital Adrenal Insufficiency

Congenital Adrenal Insufficiency

OMIM number: 613743

Comments closing date: 25/07/2019

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This is a recessive genetic condition is caused by mutations in the CYP11A1. This rare condition causes acute adrenal insufficiency in infancy or childhood. Those affected patients who are 46,XY (male chromosome complement) will have female external genitalia. Severe cases result in premature birth, complete sex reversal and early onset adrenal failure, which is life-threatening. The less severe cases present at term with partial adrenal failure and partial sex reversal. Both male and female patients exhibit a typical endocrine picture of elevated ACTH levels and plasma renin activity, alongside low or absent adrenal steroids. Other reported features are low levels of blood sodium (hyponatremia); high levels of blood potassium (hyperkalemia). Failure to thrive, hyperpigmentation (bronze skin colour), respiratory disorders, neurological deterioration, seizures and salt wasting are common. Death in infancy can occur.

Review date: 2 July 2021