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Management

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With judicious management after prompt diagnosis, normal lifespan, health and fertility can be expected. Treatment aims to provide life-long replacement hydrocortisone and a salt-retaining steroid such as fludrocortisone. This will inhibit ACTH secretion and so reduce adrenal androgen production. Monitoring is essential and achieved by serial assays of serum 17-alpha-hydroxyprogesterone.

Optimal hormone replacement in infants combines normal linear growth with acceptable levels of serum 17-alpha-hydroxyprogesterone and adrenal androgens.

Surgical correction of the masculinised female genitalia is performed in the first year.

Salt losing crisis requires urgent intravenous saline, glucose and hydrocortisone.


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