{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T07:23:17Z","timestamp":1747207397504,"version":"3.40.5"},"reference-count":23,"publisher":"Bentham Science Publishers Ltd.","issue":"5","content-domain":{"domain":["eurekaselect.com"],"crossmark-restriction":true},"short-container-title":["EMIDDT"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:sec>\n<jats:title>Background:<\/jats:title>\n<jats:p>11\u03b2 hydroxylase deficiency (11\u03b2OHD) ranks as the second most common\nenzyme deficiency that causes congenital adrenal hyperplasia. Depending on the severity of the enzyme\ndeficiency, it can lead to cortisol deficiency, androgen excess and hypertension due to increased\nmineralocorticoid precursor levels. Many different types of mutations in the CYP11B1 gene located on\nchromosome 8q24.3 have been shown to cause 11\u03b2OHD. Here, we report a novel missense mutation\nthat leads to 11\u03b2OHD in a female patient.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Case Presentation:<\/jats:title>\n<jats:p>A 35-year-old female patient was admitted to the Endocrinology Department with\na complaint of abdominal pain. The patient had a history of genital reconstruction surgery twice in\nchildhood. On physical examination, an abdominal mass was detected. Laboratory examination of the\npatient revealed low levels of cortisol, potassium and high levels of ACTH, 11-deoxycortisol and\nandrostenedione, suggesting 11\u03b2OHD. Genotyping showed a novel homozygous missense mutation\n(c.1385T&gt;C L462P variant) detected on the 8th chromosome where the CYP11B1 gene is located.\nGlucocorticoid therapy was commenced for the patient whose diagnosis of 11\u03b2OHD was confirmed by\nboth hormonal and genetic tests. A mass originating from the left adrenal gland with the largest diameter\nof 7 cm was compatible with myelolipoma.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusion:<\/jats:title>\n<jats:p>In this case report, we aimed to contribute to the literature by reporting a new missense\nmutation in the CYP11B1 gene, leading to classic type 11\u03b2OHD that has not been described before.<\/jats:p>\n<\/jats:sec>","DOI":"10.2174\/1871530322666221007145410","type":"journal-article","created":{"date-parts":[[2022,10,10]],"date-time":"2022-10-10T04:57:01Z","timestamp":1665377821000},"page":"721-726","update-policy":"https:\/\/doi.org\/10.2174\/bsp_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: A Novel Mutation Leading to 11-\u03b2 Hydroxylase Deficiency in\na Female Patient"],"prefix":"10.2174","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9850-0481","authenticated-orcid":true,"given":"Burak","family":"Ozbas","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Erciyes University Medical School, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikail","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics,\nErciyes University Medical School, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4340-0883","authenticated-orcid":true,"given":"Huseyin","family":"Dursun","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Erciyes University Medical School, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2105-4767","authenticated-orcid":true,"given":"Izem","family":"Sahin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics,\nErciyes University Medical School, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6197-5659","authenticated-orcid":true,"given":"Aysa","family":"Hacioglu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Erciyes University Medical School, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3241-2352","authenticated-orcid":true,"given":"Zuleyha","family":"Karaca","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Erciyes University Medical School, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0969-4611","authenticated-orcid":true,"given":"Munis","family":"Dundar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics,\nErciyes University Medical School, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2024-7433","authenticated-orcid":true,"given":"Kursad","family":"Unluhizarci","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Erciyes University Medical School, Kayseri, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"965","reference":[{"key":"ref=1","doi-asserted-by":"publisher","first-page":"139","DOI":"10.3109\/09513590903215466","volume":"26","author":"Unluhizarci K.","year":"2010","unstructured":"Unluhizarci K.; Kula M.; Dundar M.; Tanriverdi F.; Israel S.; Colak R.; Dokmetas H.S.; Atmaca H.; Bahceci M.; Balci M.K.; Comlekci A.; Bilen H.; Akarsu E.; Erem C.; Kelestimur F.; The prevalence of non-classic adrenal hyperplasia among Turkish women with hyperandrogenism. Gynecol Endocrinol 2010,26(2),139-143","journal-title":"Gynecol Endocrinol"},{"key":"ref=2","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1210\/endrev\/bnab016","volume":"43","author":"Van Der Grinten C.H.L.","year":"2022","unstructured":"Van Der Grinten C.H.L.; Speiser P.W.; Ahmed S.F.; Arlt W.; Auchus R.J.; Falhammar H.; Fl\u00fcck C.E.; Guasti L.; Huebner A.; Kortmann B.B.M.; Krone N.; Merke D.P.; Miller W.L.; Nordenstr\u00f6m A.; Reisch N.; Sandberg D.E.; Stikkelbroeck N.M.M.L.; Touraine P.; Utari A.; Wudy S.A.; White P.C.; Congenital adrenal hyperplasia-current insights in pathophysiology, diagnostics, and management. Endocr Rev 2022,43(1),91-159","journal-title":"Endocr Rev"},{"key":"ref=3","doi-asserted-by":"publisher","first-page":"2194","DOI":"10.1016\/S0140-6736(17)31431-9","volume":"390","author":"El-Maouche D.","year":"2017","unstructured":"El-Maouche D.; Arlt W.; Merke D.P.; Congenital adrenal hyperplasia. Lancet 2017,390(10108),2194-2210","journal-title":"Lancet"},{"key":"ref=4","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1007\/s40618-019-01028-3","volume":"42","author":"Polat S.","year":"2019","unstructured":"Polat S.; Karaburgu S.; Unluhizarci K.; D\u00fcndar M.; \u00d6zkul Y.; Arslan Y.K.; Karaca Z.; Kelestimur F.; Comprehensive genotyping of Turkish women with hirsutism. J Endocrinol Invest 2019,42(9),1077-1087","journal-title":"J Endocrinol Invest"},{"key":"ref=5","doi-asserted-by":"publisher","first-page":"4133","DOI":"10.1210\/jc.2009-2631","volume":"95","author":"Speiser P.W.","year":"2010","unstructured":"Speiser P.W.; Azziz R.; Baskin L.S.; Ghizzoni L.; Hensle T.W.; Merke D.P.; Meyer B.H.F.L.; Miller W.L.; Montori V.M.; Oberfield S.E.; Ritzen M.; White P.C.; Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An endocrine society clinical practice guideline. J Clin Endocrinol Metab 2010,95(9),4133-4160","journal-title":"J Clin Endocrinol Metab"},{"key":"ref=6","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1007\/s12020-016-1189-x","volume":"55","author":"Bulsari K.","year":"2017","unstructured":"Bulsari K.; Falhammar H.; Clinical perspectives in congenital adrenal hyperplasia due to 11\u03b2-hydroxylase deficiency. Endocrine 2017,55(1),19-36","journal-title":"Endocrine"},{"key":"ref=7","doi-asserted-by":"publisher","first-page":"E11248","DOI":"10.1073\/pnas.1716621115","volume":"114","author":"Yau M.","year":"2017","unstructured":"Yau M.; Haider S.; Khattab A.; Ling C.; Mathew M.; Zaidi S.; Bloch M.; Patel M.; Ewert S.; Abdullah W.; Toygar A.; Mudryi V.; Al Badi M.; Alzubdi M.; Wilson R.C.; Al Azkawi H.S.; Ozdemir H.N.; Abu A.W.; Hertecant J.; Razzaghy A.M.; Funder J.W.; Al Senani A.; Sun L.; Kim S.M.; Yuen T.; Zaidi M.; New M.I.; Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11\u03b2-hydroxysteroid dehydrogenase type 2 deficiency. Proc Natl Acad Sci 2017,114(52),E11248-E11256","journal-title":"Proc Natl Acad Sci"},{"key":"ref=8","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1016\/j.tem.2008.01.002","volume":"19","author":"Nimkarn S.","year":"2008","unstructured":"Nimkarn S.; New M.I.; Steroid 11\u03b2- hydroxylase deficiency congenital adrenal hyperplasia. Trends Endocrinol Metab 2008,19(3),96-99","journal-title":"Trends Endocrinol Metab"},{"key":"ref=9","doi-asserted-by":"publisher","first-page":"105882","DOI":"10.1016\/j.jsbmb.2021.105882","volume":"211","author":"Wei C.","year":"2021","unstructured":"Wei C.; Zhang Z.; Sang M.; Dai H.; Yang T.; Sun M.; Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11\u03b2-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia. J Steroid Biochem Mol Biol 2021,211,105882","journal-title":"J Steroid Biochem Mol Biol"},{"key":"ref=10","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"Richards S.","year":"2015","unstructured":"Richards S.; Aziz N.; Bale S.; Bick D.; Das S.; Gastier F.J.; Grody W.W.; Hegde M.; Lyon E.; Spector E.; Voelkerding K.; Rehm H.L.; Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 2015,17(5),405-424","journal-title":"Genet Med"},{"key":"ref=11","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1002\/jcc.20084","volume":"25","author":"Pettersen E.F.","year":"2004","unstructured":"Pettersen E.F.; Goddard T.D.; Huang C.C.; Couch G.S.; Greenblatt D.M.; Meng E.C.; Ferrin T.E.; UCSF Chimera? A visualization system for exploratory research and analysis. J Comput Chem 2004,25(13),1605-1612","journal-title":"J Comput Chem"},{"key":"ref=12","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","volume":"596","author":"Jumper J.","year":"2021","unstructured":"Jumper J.; Evans R.; Pritzel A.; Green T.; Figurnov M.; Ronneberger O.; Tunyasuvunakool K.; Bates R.; \u017d\u00eddek A.; Potapenko A.; Bridgland A.; Meyer C.; Kohl S.A.A.; Ballard A.J.; Cowie A.; Romera P.B.; Nikolov S.; Jain R.; Adler J.; Back T.; Petersen S.; Reiman D.; Clancy E.; Zielinski M.; Steinegger M.; Pacholska M.; Berghammer T.; Bodenstein S.; Silver D.; Vinyals O.; Senior A.W.; Kavukcuoglu K.; Kohli P.; Hassabis D.; Highly accurate protein structure prediction with AlphaFold. Nature 2021,596(7873),583-589","journal-title":"Nature"},{"key":"ref=13","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/S2213-8587(13)70007-X","volume":"1","author":"Gidl\u00f6f S.","year":"2013","unstructured":"Gidl\u00f6f S.; Falhammar H.; Thil\u00e9n A.; Von D\u00f6beln U.; Ritz\u00e9n M.; Wedell A.; Nordenstr\u00f6m A.; One hundred years of congenital adrenal hyperplasia in Sweden: A retrospective, population-based cohort study. Lancet Diabetes Endocrinol 2013,1(1),35-42","journal-title":"Lancet Diabetes Endocrinol"},{"key":"ref=14","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1210\/jcem-56-2-222","volume":"56","author":"Zachmann M.","year":"1983","unstructured":"Zachmann M.; Tassinari D.; Prader A.; Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 \u03b2-hydroxylase deficiency - A study of 25 patients. J Clin Endocrinol Metab 1983,56(2),222-229","journal-title":"J Clin Endocrinol Metab"},{"key":"ref=15","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1055\/s-2002-36422","volume":"110","author":"Unluhizarci K.","year":"2002","unstructured":"Unluhizarci K.; Kelestimur F.; G\u00fcven M.; Bayram F.; Colak R.; The value of low dose (1 microg) ACTH stimulation test in the investigation of non-classic adrenal hyperplasia due to 11\u03b2-hydroxylase deficiency. Exp Clin Endocrinol Diabetes 2002,110(8),381-385","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"ref=16","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1046\/j.1365-2265.1996.8150825.x","volume":"45","author":"Kelestimur F.","year":"1996","unstructured":"Kelestimur F.; \u015eahin Y.; Ayata D.; Tutu\u015f A.; The prevalence of nonclassic adrenal hyperplasia due to 11\u03b2-hydroxylase deficiency among hirsute women in a Turkish population. Clin Endocrinol 1996,45(4),381-384","journal-title":"Clin Endocrinol"},{"key":"ref=17","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1016\/S0022-5347(17)36079-2","volume":"149","author":"Oberman A.S.","year":"1993","unstructured":"Oberman A.S.; Flatau E.; Luboshitzky R.; Bilateral testicular adrenal rests in a patient with 11-hydroxylase deficient congenital adrenal hyperplasia. J Urol 1993,149(2),350-352","journal-title":"J Urol"},{"key":"ref=18","doi-asserted-by":"publisher","first-page":"1092","DOI":"10.1136\/adc.59.11.1092","volume":"59","author":"Hochberg Z.","year":"1984","unstructured":"Hochberg Z.; Benderly A.; Zadik Z.; Salt loss in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Arch Dis Child 1984,59(11),1092-1094","journal-title":"Arch Dis Child"},{"key":"ref=19","doi-asserted-by":"publisher","first-page":"3677","DOI":"10.1007\/s11033-019-04809-4","volume":"46","author":"Dundar A.","year":"2019","unstructured":"Dundar A.; Bayramov R.; Onal M.G.; Akkus M.; Dogan M.E.; Kenanoglu S.; Cerrah G.M.; Kazimli U.; Ozbek M.N.; Ercan O.; Yildirim R.; Celmeli G.; Parlak M.; Dundar I.; Hatipoglu N.; Unluhizarci K.; Akalin H.; Ozkul Y.; Saatci C.; Dundar M.; The molecular basis and genotype\u2013phenotype correlations of Congenital Adrenal Hyperplasia (CAH) in Anatolian population. Mol Biol Rep 2019,46(4),3677-3690","journal-title":"Mol Biol Rep"},{"key":"ref=20","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1002\/ajmg.1320420617","volume":"42","author":"R\u00f6sler A.","year":"1992","unstructured":"R\u00f6sler A.; Leiberman E.; Cohen T.; High frequency of congenital adrenal hyperplasia (classic 11\u03b2-hydroxylase deficiency) among Jews from Morocco. Am J Med Genet 1992,42(6),827-834","journal-title":"Am J Med Genet"},{"key":"ref=21","doi-asserted-by":"publisher","first-page":"e3714","DOI":"10.1210\/clinem\/dgab225","volume":"106","author":"Yildiz M.","year":"2021","unstructured":"Yildiz M.; Isik E.; Abali Z.Y.; Keskin M.; Ozbek M.N.; Bas F.; Ucakturk S.A.; Buyukinan M.; Onal H.; Kara C.; Storbeck K.H.; Darendeliler F.; Cayir A.; Unal E.; Anik A.; Demirbilek H.; Cetin T.; Dursun F.; Catli G.; Turan S.; Falhammar H.; Baris T.; Yaman A.; Haklar G.; Bereket A.; Guran T.; Clinical and hormonal profiles correlate with molecular characteristics in patients with 11\u03b2-hydroxylase deficiency. J Clin Endocrinol Metab 2021,106(9),e3714-e3724","journal-title":"J Clin Endocrinol Metab"},{"key":"ref=22","doi-asserted-by":"publisher","first-page":"300","DOI":"10.14310\/horm.2002.1654","volume":"15","author":"Yurekli B.S.","year":"2016","unstructured":"Yurekli B.S.; Kutbay N.O.; Onay H.; Simsir I.Y.; Kocabas G.U.; Erdogan M.; Cetinkalp S.; Ozgen G.; Saygili F.; A novel CYP11B1 mutation in a Turkish patient with 11\u03b2-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis. Hormones 2016,15(2),300-302","journal-title":"Hormones"},{"key":"ref=23","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1016\/S2213-8587(21)00178-9","volume":"9","author":"Calissendorff J.","year":"2021","unstructured":"Calissendorff J.; Juhlin C.C.; Sundin A.; Bancos I.; Falhammar H.; Adrenal myelolipomas. Lancet Diabetes Endocrinol 2021,9(11),767-775","journal-title":"Lancet Diabetes Endocrinol"}],"container-title":["Endocrine, Metabolic &amp; Immune Disorders - Drug Targets"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.eurekaselect.com\/article\/download?doi=10.2174\/1871530322666221007145410","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.eurekaselect.com\/209744\/article","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.eurekaselect.com\/article\/download?doi=10.2174\/1871530322666221007145410","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T03:56:28Z","timestamp":1692676588000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.eurekaselect.com\/209744\/article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["LiveAll1"],"URL":"https:\/\/doi.org\/10.2174\/1871530322666221007145410","relation":{},"ISSN":["1871-5303"],"issn-type":[{"type":"print","value":"1871-5303"}],"subject":[],"published":{"date-parts":[[2023,4]]},"assertion":[{"value":"Peer Reviewed","order":0,"name":"review_status","label":"Review Status","group":{"name":"peer_review_details","label":"Peer Review Details"}},{"value":"Single blind","order":1,"name":"review_process","label":"Review Process","group":{"name":"peer_review_details","label":"Peer Review Details"}},{"value":"Checked with iThenticate","order":0,"name":"screening_status","label":"Screening Status","group":{"name":"plagiarism_screening","label":"Plagiarism Screening"}},{"value":"2022-04-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-30","order":1,"name":"revised","label":"Revised","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-15","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}