{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:19:03Z","timestamp":1790745543235,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,8,3]],"date-time":"2014-08-03T00:00:00Z","timestamp":1407024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Nonclassical congenital adrenal hyperplasia (NC\u2010CAH) is caused by mutations of the\n                      <jats:italic>CYP21A2<\/jats:italic>\n                      gene. The clinical manifestations and hormonal derangements of NC\u2010CAH are quite variable.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>(i) To define the phenotype and its relation to genotype according to gender and age and (ii) to evaluate the validity of currently applied hormonal criteria for establishing the diagnosis of NC\u2010CAH.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients and Methods<\/jats:title>\n                    <jats:p>\n                      The clinical, hormonal and molecular data of 280 subjects (235 female) with NC\u2010CAH and a median age of 17\u00b76\u00a0years were analysed.\n                      <jats:italic>CYP21A2<\/jats:italic>\n                      genotyping was performed in all subjects.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The majority of females aged less than 8\u00a0years presented with premature pubarche (88\u00b73%), while those older than 8 presented with a polycystic ovary\u2010like phenotype (63\u00b72%). A total of 7\u00b77% of the females and 51\u00b71% of the males were asymptomatic at the time of diagnosis. In the total group, 50\u00b74% of the subjects were compound heterozygotes for one classical (C) and one nonclassical (NC) mutation, while 46% of the alleles studied carried the p.V281L mutation. Basal 17OHP values were below 6\u00a0n\n                      <jats:sc>m<\/jats:sc>\n                      (2\u00a0ng\/ml) in 2\u00b71% of the subjects with NC\u2010CAH, but none had peak 17OHP values post\u2010ACTH lower than 30\u00a0n\n                      <jats:sc>m<\/jats:sc>\n                      (10\u00a0ng\/ml).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      NC\u2010CAH has a variable phenotype depending on the age, gender and the presence of a classical mutation. A peak cut\u2010off value of 17OHP post\u2010ACTH lower than 30\u00a0n\n                      <jats:sc>m<\/jats:sc>\n                      excludes the diagnosis of NC\u2010CAH, whereas basal 17OHP &lt;6\u00a0n\n                      <jats:sc>m<\/jats:sc>\n                      may represent a false\u2010negative result. A significant number of patients harboured a classical mutation, a finding which requires genotyping of the partner for genetic counselling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/cen.12543","type":"journal-article","created":{"date-parts":[[2014,7,5]],"date-time":"2014-07-05T04:51:16Z","timestamp":1404535876000},"page":"543-549","source":"Crossref","is-referenced-by-count":84,"title":["The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the\n                    <i>\n                      <scp>CYP<\/scp>\n                      21A2\n                    <\/i>\n                    gene"],"prefix":"10.1111","volume":"82","author":[{"given":"S.","family":"Livadas","sequence":"first","affiliation":[{"name":"First Department of Pediatrics Division of Endocrinology Diabetes and Metabolism School of Medicine \u201cAghia Sophia\u201d Children's Hospital National and Kapodistrian University of Athens Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Dracopoulou","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Division of Endocrinology Diabetes and Metabolism School of Medicine \u201cAghia Sophia\u201d Children's Hospital National and Kapodistrian University of Athens Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Dastamani","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Division of Endocrinology Diabetes and Metabolism School of Medicine \u201cAghia Sophia\u201d Children's Hospital National and Kapodistrian University of Athens Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Sertedaki","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Division of Endocrinology Diabetes and Metabolism School of Medicine \u201cAghia Sophia\u201d Children's Hospital National and Kapodistrian University of Athens Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Maniati\u2010Christidi","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Division of Endocrinology Diabetes and Metabolism School of Medicine \u201cAghia Sophia\u201d Children's Hospital National and Kapodistrian University of Athens Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.\u2010M.","family":"Magiakou","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Division of Endocrinology Diabetes and Metabolism School of Medicine \u201cAghia Sophia\u201d Children's Hospital National and Kapodistrian University of Athens Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Kanaka\u2010Gantenbein","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Division of Endocrinology Diabetes and Metabolism School of Medicine \u201cAghia Sophia\u201d Children's Hospital National and Kapodistrian University of Athens Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.P.","family":"Chrousos","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Division of Endocrinology Diabetes and Metabolism School of Medicine \u201cAghia Sophia\u201d Children's Hospital National and Kapodistrian University of Athens Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Dacou\u2010Voutetakis","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics Division of Endocrinology Diabetes and Metabolism School of Medicine \u201cAghia Sophia\u201d Children's Hospital National and Kapodistrian University of Athens Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,3]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"http:\/\/www.hgmd.cf.ac.uk"},{"key":"e_1_2_6_3_1","unstructured":"http:\/\/www.cypalleles.ki.se\/cyp21"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpag.2010.10.001"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.6.2845"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(13)70007-X"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2011.04123.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1155\/2010\/625105"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2631"},{"key":"e_1_2_6_10_1","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1210\/jcem.85.3.6441","article-title":"Predicting phenotype in steroid 21\u2010hydroxylase deficiency? 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