{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:24:16Z","timestamp":1790821456097,"version":"4.1.0"},"reference-count":44,"publisher":"The Endocrine Society","issue":"9","license":[{"start":{"date-parts":[[2021,4,8]],"date-time":"2021-04-08T00:00:00Z","timestamp":1617840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Medical Research Council of Marmara University","award":["SAG-A-120418-0152"],"award-info":[{"award-number":["SAG-A-120418-0152"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,8,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Given the rarity of 11\u03b2-hydroxylase deficiency (11\u03b2OHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11\u03b2OHD) and nonclassic 11\u03b2OHD (NC-11\u03b2OHD).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To characterize a multicenter pediatric cohort with 11\u03b2OHD.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Method<\/jats:title>\n                  <jats:p>The clinical and biochemical characteristics were retrospectively retrieved. CYP11B1 gene sequencing was performed. Seventeen plasma steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>102 patients (C-11\u03b2OHD, n\u2005=\u200592; NC-11\u03b2OHD, n\u2005=\u200510) from 76 families (46,XX; n\u2005=\u200553) had biallelic CYP11B1 mutations (novel 9 out of 30). Five 46,XX patients (10%) were raised as males. Nineteen patients (19%) had initially been misdiagnosed with 21-hydroxylase deficiency. Female adult height was 152 cm [\u22121.85 SD score (SDS)] and male 160.4 cm (\u22122.56 SDS).None of the NC-11\u03b2OHD girls had ambiguous genitalia (C-11\u03b2OHD 100%), and none of the NC-11\u03b2OHD patients were hypertensive (C-11\u03b2OHD 50%). Compared to NC-11\u03b2OHD, C-11\u03b2OHD patients were diagnosed earlier (1.33 vs 6.9 years; P\u2005&amp;lt;\u20050.0001), had higher bone age-to-chronological age (P\u2005=\u20050.04) and lower adult height (\u22122.46 vs \u22121.32 SDS; P\u2005=\u20050.05). The concentrations of 11-oxygenated androgens and 21-deoxycortisol were low in all patients. The baseline ACTH and stimulated cortisol were normal in NC-11\u03b2OHD. Baseline cortisol; cortisone; 11-deoxycortisol; 11-deoxycorticosterone and corticosterone concentrations; and 11-deoxycortisol\/cortisol, 11-deoxycorticosterone\/cortisol, and androstenedione\/cortisol ratios were higher in C-11\u03b2OHD than NC-11\u03b2OHD patients (P\u2005&amp;lt;\u20050.05). The 11-deoxycortisol\/cortisol ratio &amp;gt;2.2, &amp;lt;1.5, and &amp;lt;0.1 had 100% specificity to segregate C-11\u03b2OHD, NC-11\u03b2OHD, and control groups.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>NC-11\u03b2OHD can escape from clinical attention due to relatively mild clinical presentation. However, steroid profiles enable the diagnosis, differential diagnosis, and subtyping of 11\u03b2OHD.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgab225","type":"journal-article","created":{"date-parts":[[2021,4,8]],"date-time":"2021-04-08T22:43:15Z","timestamp":1617921795000},"page":"e3714-e3724","source":"Crossref","is-referenced-by-count":42,"title":["Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11\u03b2-Hydroxylase Deficiency"],"prefix":"10.1210","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6603-2983","authenticated-orcid":false,"given":"Melek","family":"Yildiz","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey"},{"name":"Department of Pediatric Endocrinology and Diabetes, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emregul","family":"Isik","sequence":"additional","affiliation":[{"name":"Clinics of Pediatric Endocrinology, Gaziantep Children\u2019s Hospital, Gaziantep, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehra Yavas","family":"Abali","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, Marmara University, Faculty of Medicine, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"Keskin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, Gaziantep University, School of Medicine , Gaziantep, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet Nuri","family":"Ozbek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes, SBU Diyarbakir Gazi Yasargil Education and Research Hospital, 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