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Newborn Screening ACT Sheet

[Elevated 17-hydroxyprogesterone (17-OHP)]
Congenital Adrenal Hyperplasia (CAH)

Differential Diagnosis: Congenital Adrenal Hyperplasia (CAH), 21-OH deficiency; stress or prematurity are possible secondary causes of increased 17-OHP.

Condition Description: : Lack of adequate adrenal cortisol and aldosterone, and increased androgen production.


  • Contact family to inform them of the newborn screening result and ascertain clinical status.
  • Consult with pediatric endocrinologist, having the following information available (sex, age at NBS sampling, birth weight) and refer, if needed.
  • Examine the newborn (ambiguous genitalia or non palpable testes, lethargy, vomiting, poor feeding).
  • Initiate timely confirmatory/diagnostic testing as recommended by specialist.
  • Emergency treatment as indicated (e.g. IV fluids, IM/IV hydrocortisone).
  • Educate family about signs, symptoms and need for urgent treatment of adrenal crisis.
  • Report findings to newborn screening program.

Diagnostic Evaluation:

Diagnostic tests include serum 17-0HP (increased), serum electrolytes (reduced sodium and increased potassium), and blood glucose (reduced). Additional tests may be recommended by the specialist.

Clinical Considerations:

Ambiguous genitalia in females who may appear to be male with non-palpable testes. Infants with Congenital Adrenal Hyperplasia are at risk for life-threatening adrenal crises, shock, and death in males and females. Finding could also be a false positive associated with stress or prematurity.

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