Article
Severe adrenal insufficiency in six neonates with normal newborn screening for CAH.
Clinical endocrinology - 1 Aug 2024
Kurt Ilknur, Eser Metin, Kahveci Ahmet, Ucar Ahmet, Bulus Derya, Ozcabi Bahar, Guran Omer, Karagozlu Selen, Ersoy Aysenur, Demir Senol, Geckinli Bilge, Guran Tulay
Abstract excerpt
BACKGROUND: Newborn screening (NBS) reduces the risk of mortality in congenital adrenal hyperplasia (CAH), mainly due to the salt-wasting form of 21-hydroxylase deficiency. There is limited knowledge regarding the results of NBS in non-CAH primary adrenal insufficiency (non-CAH PAI). PATIENTS AND METHODS: Clinical and NBS for CAH data of neonates who were diagnosed with non-CAH PAI between January and December...
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