{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T16:38:11Z","timestamp":1782405491788,"version":"3.54.5"},"reference-count":33,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Chemistry and Laboratory Medicine"],"published-print":{"date-parts":[[2011,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>\n                  <jats:bold>Background:<\/jats:bold> The specificity of screening for congenital adrenal hyperplasia by direct measurement of 17-hydroxyprogesterone in filter paper dried blood spot samples by immunoassay is low and has a high false-positive rate. In order to reduce the false-positive rate of this test, we developed a rapid, robust, specific confirmatory procedure in which cortisol, 4-androstene-3,17-dione and 17-hydroxyprogesterone were measured simultaneously by ultra-performance liquid chromatography-tandem mass spectrometry.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> After extraction, samples were analysed by ultra-performance liquid chromatography-tandem mass spectrometry and 17-hydroxyprogesterone was quantified accurately. Other steroids were determined using stable deuterated internal standards. In total, 25 patient blood spot samples and 92 control samples were analysed.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> The assay was linear for 17-hydroxyprogesterone, with a coefficient of determination &gt;0.997 and imprecision \u22646.5%. An upper limit of normal for 17-hydroxyprogester-one of 4.45\u00a0nmol\/L was established by analysing a cohort of samples from unaffected newborns. In addition, a cut-off of 3.5 for the peak areas ratio (17-hydroxyprogesterone+4-androstene-3,17-dione)\/cortisol, allows confirmation of the affected steroidogenic enzyme.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> A high throughput method for the detection of steroids related to congenital adrenal hyperplasia has been developed, allowing the false-positive rate associated with screening for 17-hydroxyprogesterone by immunoassay to be determined.<\/jats:p>","DOI":"10.1515\/cclm.2011.109","type":"journal-article","created":{"date-parts":[[2011,2,3]],"date-time":"2011-02-03T11:28:25Z","timestamp":1296732505000},"page":"677-684","source":"Crossref","is-referenced-by-count":20,"title":["Confirmation of congenital adrenal hyperplasia by adrenal steroid profiling of filter paper dried blood samples using ultra-performance liquid chromatography-tandem mass spectrometry"],"prefix":"10.1515","volume":"49","author":[{"given":"Claudia","family":"Rossi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Calton","sequence":"additional","affiliation":[{"name":"Clinical Operations Group, Waters Corporation, Atlas Park, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather A.","family":"Brown","sequence":"additional","affiliation":[{"name":"Clinical Operations Group, Waters Corporation, Atlas Park, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Gillingwater","sequence":"additional","affiliation":[{"name":"Clinical Operations Group, Waters Corporation, Atlas Park, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. 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