Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder involving

impaired synthesis of cortisol by the adrenal cortex.  Children affected with CAH are at risk for life-threatening adrenal crises. Female newborns with classic virilizing CAH often have ambiguous genitalia. If an infant, male or female, is not screened and/or left

untreated, symptoms begin to appear later in infancy and can include precocious puberty,

advanced bone age, shock, and salt-wasting adrenal crises.

Incidence: ~ 1/18,000; affects all ethnic groups

 

Diagnosis:  Electrolytes and serum 17-hydroxyprogesterone should be obtained. If the baby is symptomatic with salt-wasting or ambiguous genitalia, evaluation by an endocrinologist should be obtained IMMEDIATELY.

 

Treatment: Affected children require life-long treatment with cortisol and glucocorticoids and monitoring by both primary care and speciality providers. During periods of stress, increased amounts of glucocorticoids will be required.

 

False positives: Premature babies and babies who are ill and under a lot of stress are more likely to have false positive results. For these babies, a repeat NBS may be requested.

***Results cannot be accurately interpreted if collected before 24 hours or after administration of hormone therapy.

 

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