{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T11:21:38Z","timestamp":1784546498493,"version":"3.55.0"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,5,26]],"date-time":"2024-05-26T00:00:00Z","timestamp":1716681600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Newborn screening (NBS) reduces the risk of mortality in congenital adrenal hyperplasia (CAH), mainly due to the salt\u2010wasting form of 21\u2010hydroxylase deficiency. There is limited knowledge regarding the results of NBS in non\u2010CAH primary adrenal insufficiency (non\u2010CAH PAI).<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods<\/jats:title><jats:p>Clinical and NBS for CAH data of neonates who were diagnosed with non\u2010CAH PAI between January and December 2022 were examined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients (<jats:italic>n<\/jats:italic>\u2009=\u20096, 4 females) were presented with severe hyperpigmentation (<jats:italic>n<\/jats:italic>\u2009=\u20096), hypoglycemia (<jats:italic>n<\/jats:italic>\u2009=\u20094), hyponatremia (<jats:italic>n<\/jats:italic>\u2009=\u20093), hyperkalemia (<jats:italic>n<\/jats:italic>\u2009=\u20091), respiratory distress syndrome (<jats:italic>n<\/jats:italic>\u2009=\u20091) between 3rd hour to 2 months of life. All had normal NBS results. The median first\u2010tier 17\u2010hydroxyprogesterone (17OHP) concentration in NBS for CAH was 0.14\u2009ng\/mL (range; 0.05\u22120.85). Molecular studies revealed biallelic mutations in the <jats:italic>MC2R<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20094; 3 homozygous, 1 compound heterozygous), <jats:italic>MRAP<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20091) and <jats:italic>STAR<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20091) genes. Glucocorticoid with or without mineralocorticoid replacement was initiated once the diagnosis of\u00a0non\u2010CAH PAI was established.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Neonates with non\u2010CAH 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 \u2018normal\u2019 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.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.15080","type":"journal-article","created":{"date-parts":[[2024,5,26]],"date-time":"2024-05-26T12:09:35Z","timestamp":1716725375000},"page":"108-113","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Severe adrenal insufficiency in six neonates with normal newborn screening for CAH"],"prefix":"10.1111","volume":"101","author":[{"given":"Ilknur","family":"Kurt","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology Marmara University School of Medicine Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Metin","family":"Eser","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Umraniye Training and Research Hospital University of Health Sciences Istanbul 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