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:
- "Stat" serum 17-OHP
- Serial serum electrolytes (look for decreased sodium and increased potassium) and
- 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.