Health Professionals Guide to Newborn Screening

Congenital Adrenal Hyperplasia

A family of diseases whose common feature is an enzymatic defect in the steroidogenic pathway leading to the biosynthesis of cortisol. The 21-hydroxylase deficiency accounts for 90 to 95 percent of CAH cases, resulting in ambiguous genitalia in females and salt-losing crisis in either males or females. Early detection and treatment is essential to prevent death in infants with salt-losing CAH.

Prevalence (WI):	1:13,500
Analyte Measured:	17-Hydroxyprogesterone (17-OHP)
Reporting Ranges:	Reporting ranges are birth weight dependent. Birth Weight (g) 17-OHP (ng/mL) Report (color) < 1,500 ³ 125 Possible (blue) 1,500 – 2,499 51 – 62 ³ 63 Possible (blue) Definite (gold) ³ 2,50 32 - 44 ³ 45 Possible (blue) Definite (gold)
Feeding Effect:	None
Timing Effect:	False positive 17-OHP results may occur if specimen is collected before 24 hours of age.
Confirmation:	Repeat newborn screen through the WSLH. Federal Express second specimen if result reported is received by phone.
Treatment:	Salt-losing diagnosis: Cortisol or analogs and 9 a flurocortisol (florinef) Non-salt-losing diagnosis: Cortisol or analogs Ambiguous genitalia: Surgery

COMMENT: Repeat of non-normal 17-OHP newborn screening tests by a “reference” laboratory is not recommended due to the potential confusion in reporting units.

Information on treatment centers is also available on this site.

For information about other screened disorders, click on the next page button, or follow one of these links:

• Argininosuccinic Acidemia (ASA)	• Hemoglobin Variants
• Biotinidase Deficiency	• Homocystinuria
• Congenital Adrenal Hyperplasia	• Hypermethioninemia
• Congenital Hypothyroidism	• Hyperphenyalaninemia
• Citrullinemia (Types I & II)	• Maple Syrup Urine Disease
• Cystic Fibrosis	• Organic Acidemias (14)
• Fatty Acid Oxidation Disorders (12)	• Phenylketonuria (Includes Biopterin Cofactor defects of regeneration and biosynthesis)
• Galactosemia	• Severe Combined Immune Deficiency (SCID)
• Hemoglobin S-Beta Thallassemia	• Sickle Cell Disease
• Hemoglobin S/C Disease	• Tyrosinemia (Types I,II, & III)

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