Severe adrenal insufficiency in six neonates with normal newborn screening for CAH.
Ilknur KurtMetin EserAhmet KahveciAhmet UcarDerya BulusBahar OzcabiOmer GuranSelen KaragozluAysenur ErsoySenol DemirBilge GeckinliTülay GüranPublished in: Clinical endocrinology (2024)
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.