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Highly Elevated 17-Hydroxyprogesterone (17-OHP) AND Also A Positive Steroid Profile

Result: Highly elevated 17-OHP screening values: B.W. ≥2500 gms, ≥70 nmol/L; B.W. <2500 gms, ≥140 nmol/L AND Positive (abnormal) steroid profile: Abnormal result = steroid profile ratio ≥1.5

Steroid profile analysis of the original filter paper specimen has been performed, and is positive.

This result further raises the risk that this infant has congenital adrenal hyperplasia.

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 at 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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