{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T04:45:01Z","timestamp":1764996301542,"version":"3.40.5"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,12,4]],"date-time":"2020-12-04T00:00:00Z","timestamp":1607040000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To report clinical, hormonal and structural effects of <jats:italic>CYP11B1<\/jats:italic> pathogenic variations in Indian patients with 11\u03b2\u2010hydroxylase deficiency (11\u03b2OHD) and find hormonal criteria that accurately distinguish 11\u03b2OHD from 21\u03b1\u2010hydroxylase deficiency (21OHD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Retrospective record review of genetically diagnosed patients with 11\u03b2OHD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Measurements<\/jats:title><jats:p>Clinical features, hormonal parameters at diagnosis (by immunoassay) and recent follow\u2010up of 13 genetically proven 11\u03b2OHD patients managed at our centre were retrospectively reviewed. ACTH\u2010stimulated serum adrenal steroids (measured by LC\u2010MS\/MS) of 11\u03b2OHD were compared with those of simple virilizing and non\u2010classic 21OHD. Structural analysis of the observed pathogenic variations was performed by computational modelling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Nine (four females) and four (all females) patients had classic and non\u2010classic disease, respectively. All 11\u03b2OHD patients had elevated ACTH\u2010stimulated serum 11\u2010deoxycortisol (26.5\u2013342.7\u00a0nmol\/L) whereas none had elevated serum 17\u2010hydroxyprogesterone (4.2\u201321.2\u00a0nmol\/L); both hormonal parameters distinguished 11\u03b2OHD from 21OHD with 100% accuracy. ACTH\u2010stimulated serum cortisol, but not 11\u2010deoxycortisol, clearly distinguished classic (&lt;70\u00a0nmol\/L) from non\u2010classic (&gt;160\u00a0nmol\/L) disease. Thirteen (eight novel, two recurrent) pathogenic variants were observed. Only missense mutations were observed among patients with non\u2010classic disease. Computational modelling predicted the possible affection of enzyme structure and function for all the observed missense mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This first Indian study describes 13 11\u03b2OHD patients, including four with the rarer non\u2010classic variant. A total of eight novel pathogenic variants were identified in our study, highlighting regional genetic heterogeneity. Measurement of ACTH\u2010stimulated adrenal steroids by LC\u2010MS\/MS will help avoid the misdiagnosis of 11\u03b2OHD as 21OHD and has potential to distinguish classic from non\u2010classic 11\u03b2OHD.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.14376","type":"journal-article","created":{"date-parts":[[2020,12,4]],"date-time":"2020-12-04T15:03:03Z","timestamp":1607094183000},"page":"533-543","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Expanding genetic spectrum and discriminatory role of steroid profiling by LC\u2010MS\/MS in 11\u03b2\u2010hydroxylase deficiency"],"prefix":"10.1111","volume":"94","author":[{"given":"Manjiri Pramod","family":"Karlekar","sequence":"first","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijaya","family":"Sarathi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Vydehi Institute of Medical Sciences and Research Centre Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9623-4471","authenticated-orcid":false,"given":"Anurag","family":"Lila","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khushnandan","family":"Rai","sequence":"additional","affiliation":[{"name":"Department of Biosciences and Bioengineering Indian Institute of Technology Bombay Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sneha","family":"Arya","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vishwambhar Vishnu","family":"Bhandare","sequence":"additional","affiliation":[{"name":"Department of Biosciences and Bioengineering Indian Institute of Technology Bombay Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sridevi","family":"Atluri","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Vydehi Institute of Medical Sciences and Research Centre Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virendra","family":"Patil","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Swati","family":"Ramteke\u2010Jadhav","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nalini S.","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ambarish","family":"Kunwar","sequence":"additional","affiliation":[{"name":"Department of Biosciences and Bioengineering Indian Institute of Technology Bombay Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6902-4639","authenticated-orcid":false,"given":"Tushar","family":"Bandgar","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Seth G S Medical College &amp; KEM Hospital Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,12,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-016-1189-x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1621082114"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2010-0013"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2018.04.001"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1306"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/09513590.2018.1482870"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2018-0298"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.biochem.7b00034"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000337974"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2020.2019.0182"},{"issue":"6","key":"e_1_2_10_12_1","doi-asserted-by":"crossref","first-page":"2179","DOI":"10.1210\/jc.2005-1890","article-title":"Serum 21\u2010Deoxycortisol, 17\u2010Hydroxyprogesterone, and 11\u2010deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta\u2010hydroxylase deficiency among a large group with alleged 21\u2010hydroxylase deficiency","volume":"91","author":"Tonetto\u2010Fernandes V","year":"2006","journal-title":"J Clin Endocrinol Me"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0209"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.197"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA118.006214"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcc.21256"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcc.20084"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0010-4655(95)00042-E"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky300"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2012.08.011"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1210\/JC.2015-2093"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-11-0828"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2018-00258"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80497-4"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-00241"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1177\/0004563214529748"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2019-00547"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12672-011-0099-x"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)31431-9"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-13-0737"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1258\/acb.2011.011014"},{"issue":"4","key":"e_1_2_10_32_1","first-page":"189","article-title":"Cosegregation of a novel homozygous CYP11B1 mutation with the phenotype of non\u2010classical congenital adrenal hyperplasia in a consanguineous family","volume":"67","author":"Peters CJ","year":"2007","journal-title":"Horm Res"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygcen.2011.12.017"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0651"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12834"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.10.4552"},{"issue":"1","key":"e_1_2_10_37_1","first-page":"37","article-title":"Clinical, hormonal and molecular genetic characterisation of Hungarian patients with 11\u03b2\u2010hydroxylase deficiency","volume":"2","author":"Solyom J","year":"2001","journal-title":"J Endocr Genet"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2005.18.2.133"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cen.14376","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cen.14376","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cen.14376","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T00:26:57Z","timestamp":1693614417000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cen.14376"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,4]]},"references-count":37,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1111\/cen.14376"],"URL":"https:\/\/doi.org\/10.1111\/cen.14376","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"type":"print","value":"0300-0664"},{"type":"electronic","value":"1365-2265"}],"subject":[],"published":{"date-parts":[[2020,12,4]]},"assertion":[{"value":"2020-09-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}