{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T08:32:17Z","timestamp":1774686737507,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,6,3]],"date-time":"2011-06-03T00:00:00Z","timestamp":1307059200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:p>Sarafoglou K, Lorentz CP, Otten N, Oetting WS, Grebe SKG. Molecular testing in congenital adrenal hyperplasia due to 21<jats:italic>\u03b1<\/jats:italic>\u2010hydroxylase deficiency in the era of newborn screening.<\/jats:p><jats:p>Newborn screening (NBS) identifies the majority of classical [salt\u2010wasting (SW) and simple\u2010virilizing (SV)] cases of congenital adrenal hyperplasia (CAH) due to 21<jats:italic>\u03b1<\/jats:italic>\u2010hydroxylase (21<jats:italic>\u03b1<\/jats:italic>\u2010OHase) during the first days of life. Diagnosis of classical CAH is confirmed by follow\u2010up serum 17\u2010hydroxyprogesterone and\/or the adrenocorticotropin stimulation test; however, neither test definitively distinguishes between the classical subtypes. After confirmation, all newborns are started on hydrocortisone (glucocorticoid) and fludrocortisone (mineralocorticoid) treatment. While initiating fludrocortisone treatment in classical CAH patients, independent of subtype and before SW signs or symptoms occur, prevents a life\u2010threatening SW crisis, it may later complicate distinguishing between the classical subtypes. Genotype\u2013phenotype correlations in 21<jats:italic>\u03b1<\/jats:italic>\u2010OHase deficiency are excellent; however, molecular testing is not a regular part of the diagnostic workup. Molecular testing on 39 patients (25 identified by NBS) with an already established diagnosis of CAH identified 11 SW patients (8 identified by NBS) whose mutations suggested further biochemical and clinical reassessment of their subtype. Overall, SW accounted for 57.6% of our classical CAH patients, below the generally accepted figure that &gt;75% of classical CAH are comprised of the SW form. In the era of NBS, molecular testing is a valuable supplemental tool identifying patients who may benefit from reassessment of their salt\u2010retaining ability.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01694.x","type":"journal-article","created":{"date-parts":[[2011,4,29]],"date-time":"2011-04-29T09:05:58Z","timestamp":1304067958000},"page":"64-70","source":"Crossref","is-referenced-by-count":13,"title":["Molecular testing in congenital adrenal hyperplasia due to 21<i>\u03b1<\/i>\u2010hydroxylase deficiency in the era of newborn screening"],"prefix":"10.1111","volume":"82","author":[{"given":"K","family":"Sarafoglou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C P","family":"Lorentz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Otten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W 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