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Paediatrics > Congenital Adrenal Hyperplasia > Flashcards

Congenital Adrenal Hyperplasia Flashcards

1
Q

What is CAH?

A

Family of inherited enzyme deficiencies that impair normal corticosteroid synthesis in the adrenal cortex

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2
Q

What is the most common enzyme deficiency?

A

21-hydroxylase

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3
Q

What are the features of CAH?

A

Ambiguous genitalia

Salt wasting crisis

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4
Q

What are features of a salt wasting crisis?

A 
Poor feeding
Weight loss / failure to thrive
Vomiting
Hypotension
Hyponatraemia
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5
Q

How is CAH managed?

A

Glucocorticoid replacement

+/- mineralocorticoid replacement

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Paediatrics (40 decks)

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