{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T06:46:36Z","timestamp":1750315596775},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,12,21]],"date-time":"2017-12-21T00:00:00Z","timestamp":1513814400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003009","name":"Science and Technology Development Fund","doi-asserted-by":"publisher","award":["4671"],"award-info":[{"award-number":["4671"]}],"id":[{"id":"10.13039\/501100003009","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>CYP21A2<\/jats:italic> genotyping remains an important element in the diagnosis and management of congenital adrenal hyperplasia, and establishing accurate genotype\u2013phenotype correlations has facillitated adequate genetic counseling and prenatal management for at\u2010risk families. Despite extensive efforts to establish a clear genotype\u2013phenotype correlation, some discordance remains. Establishing a diagnosis of congenital adrenal hyperplasia on the basis of biochemical and clinical data is occasionally challenging, and the identification of <jats:italic>CYP21A2<\/jats:italic> mutations may help confirm the diagnosis. We review the diagnostic challenges despite an extensive genetic evaluation for 14 patients with a suspected clinical and biochemical diagnosis of congenital adrenal hyperplasia. Other diagnostic entities should be considered in the absence of convincing genetic data.<\/jats:p>","DOI":"10.1111\/nyas.13540","type":"journal-article","created":{"date-parts":[[2017,12,21]],"date-time":"2017-12-21T15:48:39Z","timestamp":1513871319000},"page":"11-20","source":"Crossref","is-referenced-by-count":6,"title":["<i>CYP21A2<\/i> genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge"],"prefix":"10.1111","volume":"1415","author":[{"given":"Fatma","family":"Elmougy","sequence":"first","affiliation":[{"name":"Department of Clinical and Chemical Pathology Cairo University  Giza Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sahar","family":"Sharaf","sequence":"additional","affiliation":[{"name":"Department of Clinical and Chemical Pathology Cairo University  Giza 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