Severe adrenal insufficiency in six neonates with normal newborn screening for congenital adrenal hyperplasia (CAH)
Authors' conclusion
Neonates with non-CAH PAI have always normal NBS due to persistently low 17OHP, even when these newborn infants are severely symptomatic for adrenal insufficiency. Clinicians should be alert for signs of adrenal insufficiency in neonates, even if the patient has a 'normal' screening for CAH, so as not to delay diagnosis and treatment. This fact should be kept in mind particularly in countries where these conditions are more common than elsewhere.
Study context
- Population
- Neonates diagnosed with non-CAH primary adrenal insufficiency (non-CAH PAI), January–December 20224 females
- Participants
- 6 neonates
- Outcome
- NBS for CAH results
Methodological detailsGlucocorticoid with or without mineralocorticoid replacement initiated once non-CAH PAI diagnosis established
- Glucocorticoid with or without mineralocorticoid replacement initiated once non-CAH PAI diagnosis established
Main finding
As reported in the abstract
All had normal newborn screening (NBS) results
6
First-tier 17-hydroxyprogesterone (17OHP) in NBS for CAH, median (range)
0.14 ng/mL
0.05–0.85
Observational data: associations, not effects.
Further findings
Clinical presentation (3rd hour to 2 months of life)
- Severe hyperpigmentation
- 6
- Hypoglycemia
- 4
- Hyponatremia
- 3
- Hyperkalemia
- 1
- Respiratory distress syndrome
- 1
Molecular studies: biallelic mutations
- MC2R (3 homozygous, 1 compound heterozygous)
- 4
- MRAP
- 1
- STAR
- 1
Original publication
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