{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T12:51:26Z","timestamp":1754398286140,"version":"3.37.3"},"reference-count":11,"publisher":"Endocrinology Research Centre","issue":"5","license":[{"start":{"date-parts":[[2021,11,12]],"date-time":"2021-11-12T00:00:00Z","timestamp":1636675200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.probl-endojournals.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":["www.probl-endojournals.ru"],"crossmark-restriction":true},"short-container-title":["Probl Endokrinol (Mosk)"],"abstract":"<jats:p>11\u03b2-hydroxylase deficiency is a rare autosomal recessive disorder due to impaired steroidogenesis in the adrenal cortex caused by pathogenic mutations in the CYP11B1 gene. The main clinical manifestations are determined by a deficiency of cortisol, ACTH hyperproduction, excessive androgens secretion and the accumulation of 11-deoxycorticosterone, which leads to the development of arterial hypertension. In the diagnostic search, it is important to take into account the ethnicity of the patient, since the frequency of the disease and the prevalence of mutations differ between ethnic groups. The article presents a clinical case of 11\u03b2-hydroxylase deficiency as the result of compound heterozygous mutations in the CYP11B1 gene in a patient of Turkic origin. This case shows the clinical manifestations and the development of complications of 11\u03b2-hydroxylase deficiency, the stages of differential diagnosis of patients with 21-hydroxylase deficiency.<\/jats:p>","DOI":"10.14341\/probl12749","type":"journal-article","created":{"date-parts":[[2021,11,12]],"date-time":"2021-11-12T07:31:07Z","timestamp":1636702267000},"page":"53-57","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":1,"title":["Congenital adrenal hyperplasia due to 11\u03b2-hydroxylase deficiency: late diagnosis and gender reassignment in a two-year-old child"],"prefix":"10.14341","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0361-5329","authenticated-orcid":true,"given":"N. Yu.","family":"Raygorodskaya","sequence":"first","affiliation":[{"name":"Saratov State Medical University by V.I. Rasumovskiy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6462-7262","authenticated-orcid":true,"given":"E. P.","family":"Novikova","sequence":"additional","affiliation":[{"name":"Saratov State Medical University by V.I. Rasumovskiy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8500-4841","authenticated-orcid":true,"given":"A. N.","family":"Tyulpakov","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre; Genetic Research Centre by N.P.Bochkov"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1320-6561","authenticated-orcid":true,"given":"M. A.","family":"Kareva","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8907-8370","authenticated-orcid":true,"given":"N. A.","family":"Nikolaeva","sequence":"additional","affiliation":[{"name":"Saratov State Medical University by V.I. Rasumovskiy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8148-526X","authenticated-orcid":true,"given":"N. V.","family":"Bolotova","sequence":"additional","affiliation":[{"name":"Saratov State Medical University by V.I. Rasumovskiy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5458","published-online":{"date-parts":[[2021,11,12]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Mulatero P. Recombinant CYP11B Genes Encode Enzymes that Can Catalyze Conversion of 11-Deoxycortisol to Cortisol, 18-Hydroxycortisol, and 18-Oxocortisol. J Clin Endocrinol Metab. 1998;83(11):3996-4001. doi: https:\/\/doi.org\/10.1210\/jc.83.11.3996","DOI":"10.1210\/jc.83.11.3996"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Bizzarri C, Pedicelli S, Cappa M, Cianfarani S. 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Horm Res Paediatr. 2010;74(3):182-189. doi: https:\/\/doi.org\/10.1159\/000281417","DOI":"10.1159\/000281417"},{"key":"ref6","doi-asserted-by":"crossref","unstructured":"Kandemir N, Yordam N. Congenital adrenal hyperplasia in Turkey: a review of 273 patients. Acta Paediatr. 1997;86(1):22-25. doi: https:\/\/doi.org\/10.1111\/j.1651-2227.1997.tb08824.x","DOI":"10.1111\/j.1651-2227.1997.tb08824.x"},{"key":"ref7","doi-asserted-by":"crossref","unstructured":"Ba\u015f F, Toksoy G, Ergun-Longmire B, et al. Prevalence, clinical characteristics and long-term outcomes of classical 11 \u03b2-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene. J Steroid Biochem Mol Biol. 2018;181:88-97. doi: https:\/\/doi.org\/10.1016\/j.jsbmb.2018.04.001","DOI":"10.1016\/j.jsbmb.2018.04.001"},{"key":"ref8","doi-asserted-by":"crossref","unstructured":"Ionova TA, Zubkova NA, Tiul\u2019pakov AN, et al. The non-classical form of congenital adrenal cortical hyperplasia due to 11\u0392-hydroxylase deficiency: the description of three clinical cases. Problems of Endocrinology. 2013;59(3):36-44. (In Russ.). doi: https:\/\/doi.org\/10.14341\/probl201359336-44","DOI":"10.14341\/probl201359336-44"},{"key":"ref9","doi-asserted-by":"crossref","unstructured":"Khattab A, Haider S, Kumar A, et al. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11\u03b2-hydroxylase deficiency. Proc Natl Acad Sci. 2017;114(10):E1933-E1940. doi: https:\/\/doi.org\/10.1073\/pnas.1621082114","DOI":"10.1073\/pnas.1621082114"},{"key":"ref10","doi-asserted-by":"crossref","unstructured":"Miller WL. Mechanisms in endocrinology: Rare defects in adrenal steroidogenesis. Eur J Endocrinol. 2018;179(3):R125-R141. doi: https:\/\/doi.org\/10.1530\/EJE-18-0279","DOI":"10.1530\/EJE-18-0279"},{"key":"ref11","doi-asserted-by":"crossref","unstructured":"Krone N, Riepe FG, G\u00f6tze D, et al. Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene. 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