{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T01:20:51Z","timestamp":1780622451299,"version":"3.54.1"},"reference-count":20,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,8,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2017-0521_s_999_w2aab3b7c18b1b6b1aab1c15b1Aa\">\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Deficiency of 17\u03b1-hydroxylase (17OHD) is a rare form of adrenal hyperplasia. Diagnosis is generally delayed, impairing appropriate treatment.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0521_s_998_w2aab3b7c18b1b6b1aab1c15b2Aa\">\n                  <jats:title>Case presentation:<\/jats:title>\n                  <jats:p>Here, we report the clinical, molecular, hormonal, and treatment data of three unrelated 17OHD patients, aged 14\u201316 years with hypergonadotrophic hypogonadism; uncontrolled hypertension; primary adrenal insufficiency; and high progesterone, low to normal potassium, and low dehydroepiandrosterone, androstenedione, and testosterone levels. Liquid chromatography coupled with tandem mass spectrometry (LC-MS\/MS) at baseline and after an adrenocorticotropic hormone test showed low cortisol and cortisone and high deoxycorticosterone (DOC) and corticosterone levels; both DOC\/21-deoxycortisol and costicosterone\/cortisol ratios were very high. Patient 2 had 46,XX karyotype and patients 1 and 3, had 46,XY. A molecular analysis showed that two of the patients were homozygous for p.W406R mutation and the other patient was compound heterozygous for p.W406R and p.P428L. Hypertension was controlled only after the administration of both prednisone and mineralocorticoid antagonist.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2017-0521_s_997_w2aab3b7c18b1b6b1aab1c15b3Aa\">\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>Hypertension in young women must lead to diagnostic suspicion, even in the pre-pubertal period. The basal level of progesterone is an indicator of 17OHD. Mineral and glucocorticoid ratios obtained from LC-MS\/MS can reinforce the diagnosis. Hypertension can be controlled using glucocorticoid replacement therapy and mineralocorticoid antagonist.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2017-0521","type":"journal-article","created":{"date-parts":[[2018,7,12]],"date-time":"2018-07-12T16:02:25Z","timestamp":1531411345000},"page":"937-942","source":"Crossref","is-referenced-by-count":11,"title":["Three new Brazilian cases of 17\u03b1-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features"],"prefix":"10.1515","volume":"31","author":[{"given":"Ikaro Soares Santos","family":"Breder","sequence":"first","affiliation":[{"name":"Departamento de Pediatria, Faculdade de Ci\u00eancias M\u00e9dicas , Universidade Estadual de Campinas (UNICAMP), Rua Tessalia Vieira de Camargo , 126. Campinas , SP 13083-887 , Brazil , Phone: +55-019-35217000"},{"name":"Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM) , State University of Campinas (UNICAMP) , Campinas, SP , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heraldo Mendes","family":"Garmes","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, FCM, UNICAMP , S\u00e3o Paulo (SP) , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tais Nitsch","family":"Mazzola","sequence":"additional","affiliation":[{"name":"Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM) , State University of Campinas (UNICAMP) , Campinas, SP , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea Trevas","family":"Maciel-Guerra","sequence":"additional","affiliation":[{"name":"Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM) , State University of Campinas (UNICAMP) , Campinas, SP , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maricilda Palandi","family":"de Mello","sequence":"additional","affiliation":[{"name":"Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM) , State University of Campinas (UNICAMP) , Campinas, SP , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil","family":"Guerra-J\u00fanior","sequence":"additional","affiliation":[{"name":"Interdisciplinary Group of Study of Sex Determination and Differentiation (GIEDDS), School of Medicine (FCM) , State University of Campinas (UNICAMP) , Campinas, SP , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2018,7,9]]},"reference":[{"key":"2023040101280968996_j_jpem-2017-0521_ref_001_w2aab3b7c18b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Auchus RJ. The genetics, pathophysiology, and management of human deficiencies of P450c17. Endocrinol Metab Clin North Am 2001;30:101\u20139, vii.","DOI":"10.1016\/S0889-8529(08)70021-5"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_002_w2aab3b7c18b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Auchus RJ. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. J Steroid Biochem Mol Biol 2017;165:71\u20138.","DOI":"10.1016\/j.jsbmb.2016.02.002"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_003_w2aab3b7c18b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Chung BC, Picado-Leonard J, Haniu M, Bienkowski M, Hall PF, et al. Cytochrome P450c17 (steroid 17 alpha-hydroxylase\/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. Proc Natl Acad Sci USA 1987;84:407\u201311.","DOI":"10.1073\/pnas.84.2.407"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_004_w2aab3b7c18b1b6b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Picado-Leonard J, Miller WL. Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase\/17,20 lyase): similarity with the gene for P450c21. DNA 1987;6:439\u201348.","DOI":"10.1089\/dna.1987.6.439"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_005_w2aab3b7c18b1b6b1ab2b2b5Aa","doi-asserted-by":"crossref","unstructured":"Costa-Santos M, Kater CE, Auchus RJ, Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab 2004;89:49\u201360.","DOI":"10.1210\/jc.2003-031021"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_006_w2aab3b7c18b1b6b1ab2b2b6Aa","doi-asserted-by":"crossref","unstructured":"Martin RM, Lin CJ, Costa EM, de Oliveira ML, Carrilho A, et al. P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping. J Clin Endocrinol Metab 2003;88:5739\u201346.","DOI":"10.1210\/jc.2003-030988"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_007_w2aab3b7c18b1b6b1ab2b2b7Aa","doi-asserted-by":"crossref","unstructured":"Fontenele R, Costa-Santos M, Kater CE. 17\u03b1-hydroxylase deficiency is an underdiagnosed disease. High frequency of misdiagnoses in a large cohort of Brazilian patients. Endocr Pract 2017;24:170\u20138.","DOI":"10.4158\/EP171987.OR"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_008_w2aab3b7c18b1b6b1ab2b2b8Aa","unstructured":"Liu BL, Qiao J, Chen X, Liang J, Zuo CL, et al. Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17\u03b1-hydroxylase\/17,20 lyase deficiency. Chinese J Med Genet 2009;26:282\u20137."},{"key":"2023040101280968996_j_jpem-2017-0521_ref_009_w2aab3b7c18b1b6b1ab2b2b9Aa","unstructured":"Tao H, Lu ZL, Zhang B, Mi SH, Wang NY, et al. Study on the genetic mutations of 17 alpha-hydroxylase\/17,20-lyase deficiency in Chinese patients. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006;23:125\u20138."},{"key":"2023040101280968996_j_jpem-2017-0521_ref_010_w2aab3b7c18b1b6b1ab2b2c10Aa","doi-asserted-by":"crossref","unstructured":"Wei JQ, Wei JL, Li WC, Bi YS, Wei FC. Genotyping of five Chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile: identification of two novel CYP17 mutations. J Clin Endocrinol Metab 2006;91:3647\u201353.","DOI":"10.1210\/jc.2006-0153"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_011_w2aab3b7c18b1b6b1ab2b2c11Aa","doi-asserted-by":"crossref","unstructured":"Yang J, Cui B, Sun S, Shi T, Zheng S, et al. Phenotype-genotype correlation in eight Chinese 17\u03b1-hydroxylase\/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene. J Clin Endocrinol Metab 2006;91:3619\u201325.","DOI":"10.1210\/jc.2005-2283"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_012_w2aab3b7c18b1b6b1ab2b2c12Aa","doi-asserted-by":"crossref","unstructured":"Tian Q, Yao F, Sha G, Huang S, Tseng H, Schindler AE. Genotyping of a Chinese family with 46,XX and 46,XY 17-hydroxylase deficiency. Gynecol Endocrinol 2009;25: 485\u201390.","DOI":"10.1080\/09513590902898239"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_013_w2aab3b7c18b1b6b1ab2b2c13Aa","doi-asserted-by":"crossref","unstructured":"Han B, Xue L, Fan M, Zhao S, Liu W, Zhu H, et al. Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect. Endocrine 2016; 53:784\u201390.","DOI":"10.1007\/s12020-016-0957-y"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_014_w2aab3b7c18b1b6b1ab2b2c14Aa","doi-asserted-by":"crossref","unstructured":"Fardella CE, Zhang LH, Mahachoklertwattana P, Lin D, Miller WL. Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. J Clin Endocrinol Metab 1993;77:489\u201393.","DOI":"10.1210\/jcem.77.2.8345056"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_015_w2aab3b7c18b1b6b1ab2b2c15Aa","doi-asserted-by":"crossref","unstructured":"Kater CE, Biglieri EG. Disorders of steroid 17 alpha-hydroxylase deficiency. Endocrinol Metab Clin North Am 1994;23:341\u201357.","DOI":"10.1016\/S0889-8529(18)30101-4"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_016_w2aab3b7c18b1b6b1ab2b2c16Aa","doi-asserted-by":"crossref","unstructured":"De Paula GB, Barros BA, Carpini S, Tincani BJ, Mazzola TN, et al. 408 cases of genital ambiguity followed by single multidisciplinary team during 23 years: etiologic diagnosis and sex of rearing. Int J Endocrinol 2016;2016:4963574.","DOI":"10.1155\/2016\/4963574"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_017_w2aab3b7c18b1b6b1ab2b2c17Aa","doi-asserted-by":"crossref","unstructured":"Belgini DR, Mello MP, Baptista MT, Oliveira DM, Denardi FC, et al. Six new cases confirm the clinical molecular profile of complete combined 17\u03b1-hydroxylase\/17,20-lyase deficiency in Brazil. Arq Bras Endocrinol Metab 2010;54:711\u20136.","DOI":"10.1590\/S0004-27302010000800008"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_018_w2aab3b7c18b1b6b1ab2b2c18Aa","doi-asserted-by":"crossref","unstructured":"Mancia G, Fagard R, Narkiewicz K, Redon J, Zanchetti A, et al. 2013 ESH\/ESC practice guidelines for the management of arterial hypertension. Blood Press 2014;23:3\u201316.","DOI":"10.3109\/08037051.2014.868629"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_019_w2aab3b7c18b1b6b1ab2b2c19Aa","doi-asserted-by":"crossref","unstructured":"Bornstein SR, Allolio B, Arlt W, Barthel A, Don-Wauchope A, et al. Diagnosis and treatment of primary adrenal insufficiency: an endocrine society clinical practice guideline. J Clin Endocrinol Metab 2016;101:364\u201389.","DOI":"10.1210\/jc.2015-1710"},{"key":"2023040101280968996_j_jpem-2017-0521_ref_020_w2aab3b7c18b1b6b1ab2b2c20Aa","doi-asserted-by":"crossref","unstructured":"Funder JW, Carey RM, Mantero F, Murad MH, Reincke M, et al. The management of primary aldosteronism: case detection, diagnosis, and treatment: an endocrine society clinical practice guideline. J Clin Endocrinol Metab 2016;101:1889\u2013916.","DOI":"10.1210\/jc.2015-4061"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2018.31.issue-8\/jpem-2017-0521\/jpem-2017-0521.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0521\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0521\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T20:08:12Z","timestamp":1680379692000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0521\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,9]]},"references-count":20,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2018,7,9]]},"published-print":{"date-parts":[[2018,8,28]]}},"alternative-id":["10.1515\/jpem-2017-0521"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2017-0521","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2018,7,9]]}}}