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MPHL : congenital-adrenal-hyperplasia

Congenital Adrenal Hyperplasia (CAH)

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 specialty 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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