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Elevated 17-hydroxyprogesterone (17-OHP) and also a positive steroid profile

Result: ADH 17-OHP elevated screening values: B.W. >2500 gms, 35-70 nmol/L; B.W. <2500 gms, 55-140 nmol/L

Positive (abnormal) steroid profile (ACH positive result = steroid profile ratio >1.5)

This infant MAY HAVE congenital adrenal hyperplasia and immediate follow-up is required.

Do these tests NOW:

  1. "Stat" serum 17-OHP
  2. Serial serum electrolytes (look for decreased sodium and increased potassium) and
  3. Blood glucose (look for hypoglycemia) – at least until steroid profile results are available

Exam the baby TODAY:

Affected females usually have ambiguous genitalia, and may even appear to be male with non-palpable testes. Affected males usually have normal genitalia, but may have subtle signs of virilization or increased pigmentation. Both males and females can be at risk for life-threatening adrenal crisis, shock and death. Adrenal crisis symptoms: Emesis, excessive weight loss relative to birth weight, diaphoresis, hyperventilation, pallor, dry mucosa and lethargy. A salt-wasting crisis may develop rapidly.

If the newborn shows signs of adrenal crisis, IV glucose/saline and hydrocortisone should be administered upon consultation with a pediatric endocrinologist.

If desired, contact Arkansas Children's Hospital Pediatric Endocrinology for assistance with clinical evaluation and interpretation of results: Phone: 501-364-1430.

You may wish to refer the patient to Arkansas Children's Hospital for assistance with clinical evaluation and testing.

For more information:

  • Refer to the health department (ADH) letter that was faxed to you and information at the ADH website. Download the letter.
  • Call 501-364-4050 to speak with the Newborn Screening Coordinator to arrange an Evaluation or page at 501-364-1100.
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