{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:26Z","timestamp":1784557046145,"version":"3.55.0"},"reference-count":24,"publisher":"Bioscientifica","issue":"2","license":[{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,4,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>\n                      17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174\/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an uncharacteristic morphotype, BMI of 16.7 kg\/m\n                      <jats:sup>2<\/jats:sup>\n                      , cutaneous hyperpigmentation, and Tanner stage M1P1, with normal female external genitalia. She reported to have primary amenorrhea. Further analytical evaluations of her hormone levels were performed CT scan revealed adrenal bilateral hyperplasia and absence of female internal genitalia. A nodular lesion was observed in the left inguinal canal with 25 \u00d7 10 mm, compatible with a testicular remnant. Genetic analysis identified the c.3G&gt;A p.(Met1?) variant in homozygosity in the CYP17A1 gene, classified as pathogenic, confirming the diagnosis of 17OHD. Karyotype analysis was compatible with 46,XY. The association of severe hypokalemia, hypertension, hypocortisolism, and oligo\/amenorrhea and the absence of secondary sexual characteristics favored the diagnosis of 17OHD, confirmed by genetic testing. As in other published clinical cases, diagnosis outside pediatric age is not rare and should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>The association of severe hypokalemia, hypertension, hypocortisolism, and oligo\/amenorrhea and the absence of secondary sexual characteristics favor the diagnosis of 17-alpha-hydroxylase deficiency (17OHD).<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Diagnosis outside pediatric age is not rare.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>17OHD should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-22-0338","type":"journal-article","created":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T06:37:49Z","timestamp":1684391869000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":4,"title":["Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype"],"prefix":"10.1530","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1192-7915","authenticated-orcid":true,"given":"Bruno","family":"Bou\u00e7a","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolism - Centro Hospitalar Universit\u00e1rio de Lisboa Central, Lisbon, Portugal"},{"name":"Nova Medical School\/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"Casc\u00e3o","sequence":"additional","affiliation":[{"name":"Intensive Care Unit - Centro Hospitalar Universit\u00e1rio de Lisboa Central, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Fi\u00faza","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Unit 7.2 - Centro Hospitalar Universit\u00e1rio de Lisboa Central, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Amaral","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolism - Centro Hospitalar Universit\u00e1rio de Lisboa Central, Lisbon, Portugal"},{"name":"Nova Medical School\/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Bogalho","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolism - Centro Hospitalar Universit\u00e1rio de Lisboa Central, Lisbon, Portugal"},{"name":"Nova Medical School\/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Silva-Nunes","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes and Metabolism - Centro Hospitalar Universit\u00e1rio de Lisboa Central, Lisbon, Portugal"},{"name":"Nova Medical School\/ Faculdade de Ciencias Medicas, Universidade Nova de Lisboa, Lisbon, Portugal"},{"name":"Health and Technology Research Center (H&TRC), Escola Superior de Tecnologia da Saude de Lisboa, Lisbon, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Clinica Chimica Acta; International Journal of Clinical Chemistry","first-page":"1240","article-title":"Prevalence of common mutations in the CYP17A1 gene in Chinese Han population","volume":"412","author":"Bao","year":"2011","unstructured":"Bao XDing HXu YCui GHe YYu X & Wang DW. Prevalence of common mutations in the CYP17A1 gene in Chinese Han population. Clinica Chimica Acta; International Journal of Clinical Chemistry20114121240\u20131243. (https:\/\/doi.org\/10.1016\/j.cca.2011.03.019)"},{"key":"bib2","series-title":"Journal of Steroid Biochemistry and Molecular Biology","first-page":"71","article-title":"Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic","volume":"165","author":"Auchus","year":"2017","unstructured":"Auchus RJ. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. Journal of Steroid Biochemistry and Molecular Biology201716571\u201378. (https:\/\/doi.org\/10.1016\/j.jsbmb.2016.02.002)"},{"key":"bib3","series-title":"Nature","first-page":"116","article-title":"Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001","volume":"482","author":"DeVore","year":"2012","unstructured":"DeVore NM & Scott EE. Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001. Nature2012482116\u2013119. (https:\/\/doi.org\/10.1038\/nature10743)"},{"key":"bib4","series-title":"Journal of the Formosan Medical Association","first-page":"177","article-title":"Seventeen alpha-hydroxylase deficiency","volume":"105","author":"Wong","year":"2006","unstructured":"Wong SLShu SG & Tsai CR. Seventeen alpha-hydroxylase deficiency. Journal of the Formosan Medical Association2006105177\u2013181. (https:\/\/doi.org\/10.1016\/S0929-6646(0960342-9)"},{"key":"bib5","series-title":"Australian and New Zealand Journal of Obstetrics and Gynaecology","first-page":"477","article-title":"17-Alpha hydroxylase deficiency: an unusual cause of secondary amenorrhoea","volume":"44","author":"Philip","year":"2004","unstructured":"Philip JAnjaliThomas NRajaratnam S & Seshadri MS. 17-Alpha hydroxylase deficiency: an unusual cause of secondary amenorrhoea. Australian and New Zealand Journal of Obstetrics and Gynaecology200444477\u2013478. (https:\/\/doi.org\/10.1111\/j.1479-828X.2004.00275.x)"},{"key":"bib6","series-title":"Clinical and Experimental Reproductive Medicine","first-page":"72","article-title":"A case of 17 alpha-hydroxylase deficiency","volume":"42","author":"Kim","year":"2015","unstructured":"Kim SM & Rhee JH. A case of 17 alpha-hydroxylase deficiency. Clinical and Experimental Reproductive Medicine20154272\u201376. (https:\/\/doi.org\/10.5653\/cerm.2015.42.2.72)"},{"key":"bib7","series-title":"Endocrinology and Metabolism Clinics of North America","first-page":"341","article-title":"Disorders of steroid 17 alpha-hydroxylase deficiency","volume":"23","author":"Kater","year":"1994","unstructured":"Kater CE & Biglieri EG. Disorders of steroid 17 alpha-hydroxylase deficiency. Endocrinology and Metabolism Clinics of North America199423341\u2013357. (https:\/\/doi.org\/10.1016\/S0889-8529(1830101-4)"},{"key":"bib8","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"86","article-title":"Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency","volume":"71","author":"Moreira","year":"1990","unstructured":"Moreira ACLeal AM & Castro M. Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism19907186\u201391. (https:\/\/doi.org\/10.1210\/jcem-71-1-86)"},{"key":"bib9","series-title":"Hormone and Metabolic Research\u2009=\u2009Hormon- und Stoffwechselforschung\u2009=\u2009Hormones et Metabolisme","first-page":"339","article-title":"Adrenocorticotropin-corticosterone relationship during dexamethasone therapy in 17 alpha-hydroxylase deficiency","volume":"24","author":"Moreira","year":"1992","unstructured":"Moreira ACLeal AM & Castro M. Adrenocorticotropin-corticosterone relationship during dexamethasone therapy in 17 alpha-hydroxylase deficiency. Hormone and Metabolic Research\u2009=\u2009Hormon- und Stoffwechselforschung\u2009=\u2009Hormones et Metabolisme199224339\u2013341. (https:\/\/doi.org\/10.1055\/s-2007-1003328)"},{"key":"bib10","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"59","article-title":"The syndrome of 17,20 lyase deficiency","volume":"97","author":"Miller","year":"2012","unstructured":"Miller WL. The syndrome of 17,20 lyase deficiency. Journal of Clinical Endocrinology and Metabolism20129759\u201367. (https:\/\/doi.org\/10.1210\/jc.2011-2161)"},{"key":"bib11","series-title":"Discovery Medicine","first-page":"301","article-title":"Disorders of sex development: clinically relevant genes involved in gonadal differentiation","volume":"14","author":"Larson","year":"2012","unstructured":"Larson ANokoff NJ & Travers S. Disorders of sex development: clinically relevant genes involved in gonadal differentiation. Discovery Medicine201214301\u2013309."},{"key":"bib12","series-title":"Endocrine Reviews","first-page":"91","article-title":"17 alpha-hydroxylase\/17,20-lyase deficiency: from clinical investigation to molecular definition","volume":"12","author":"Yanase","year":"1991","unstructured":"Yanase TSimpson ER & Waterman MR. 17 alpha-hydroxylase\/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocrine Reviews19911291\u2013108. (https:\/\/doi.org\/10.1210\/edrv-12-1-91)"},{"key":"bib13","series-title":"Journal of Clinical Research in Pediatric Endocrinology","first-page":"163","article-title":"Delayed diagnosis of a 17-hydroxylase\/17,20-lyase deficient patient presenting as a 46,XY female: a low normal potassium level can be an alerting diagnostic sign","volume":"9","author":"\u00c7amtosun","year":"2017","unstructured":"\u00c7amtosun E\u015e\u0131klar ZCeylaner SKocaay P & Berbero\u011flu M. Delayed diagnosis of a 17-hydroxylase\/17,20-lyase deficient patient presenting as a 46,XY female: a low normal potassium level can be an alerting diagnostic sign. Journal of Clinical Research in Pediatric Endocrinology20179163\u2013167. (https:\/\/doi.org\/10.4274\/jcrpe.3839)"},{"key":"bib14","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"2428","article-title":"A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase\/17,20-lyase deficiency","volume":"91","author":"Brooke","year":"2006","unstructured":"Brooke AMTaylor NFShepherd JHGore MEAhmad TLin LRumsby GPapari-Zareei MAuchus RJAchermann JC, A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase\/17,20-lyase deficiency. Journal of Clinical Endocrinology and Metabolism2006912428\u20132431. (https:\/\/doi.org\/10.1210\/jc.2005-2653)"},{"key":"bib15","series-title":"Journal of Pediatric Endocrinology & Metabolism","first-page":"919","article-title":"17\u03b1-Hydroylase\/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene","volume":"28","author":"Keskin","year":"2015","unstructured":"Keskin MU\u011furlu AKSava\u015f-Erdeve \u015eSa\u011fsak EAky\u00fcz SG\u00c7etinkaya S & Aycan Z17\u03b1-Hydroylase\/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene. Journal of Pediatric Endocrinology & Metabolism201528919\u2013921. (https:\/\/doi.org\/10.1515\/jpem-2014-0444)"},{"key":"bib16","series-title":"Journal of Clinical Investigation","first-page":"1946","article-title":"17-hydroxylation hydroxylation deficiency in man","volume":"45","author":"Biglieri","year":"1966","unstructured":"Biglieri EGHerron MA & Brust N. 17-hydroxylation hydroxylation deficiency in man. Journal of Clinical Investigation1966451946\u20131954. (https:\/\/doi.org\/10.1172\/jci105499)"},{"key":"bib17","series-title":"Journal of Clinical Investigation","first-page":"1930","article-title":"Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency","volume":"49","author":"New","year":"1970","unstructured":"New MI. Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency. Journal of Clinical Investigation1970491930\u20131941. (https:\/\/doi.org\/10.1172\/JCI106412)"},{"key":"bib18","series-title":"American Journal of the Medical Sciences","first-page":"380","article-title":"17 alpha-hydroxylase deficiency masquerading as primary hyperaldosteronism","volume":"300","author":"Cottrell","year":"1990","unstructured":"Cottrell DABello FA & Falko JM. 17 alpha-hydroxylase deficiency masquerading as primary hyperaldosteronism. American Journal of the Medical Sciences1990300380\u2013382. (https:\/\/doi.org\/10.1097\/00000441-199012000-00007)"},{"key":"bib19","series-title":"Endocrinologia Japonica","first-page":"515","article-title":"Possible hyperaldosteronism and discrepancy in enzyme activity deficiency in adrenal and gonadal glands in Japanese patients with 17 alpha-hydroxylase deficiency","volume":"36","author":"Yamakita","year":"1989","unstructured":"Yamakita NMurase HYasuda KNoritake NMercado-Asis LB & Miura K. Possible hyperaldosteronism and discrepancy in enzyme activity deficiency in adrenal and gonadal glands in Japanese patients with 17 alpha-hydroxylase deficiency. Endocrinologia Japonica198936515\u2013536. (https:\/\/doi.org\/10.1507\/endocrj1954.36.515)"},{"key":"bib20","series-title":"Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae","first-page":"559","article-title":"Surgical Therapy of 17\u03b1-hydroxylase Deficiency in 30 Patients","volume":"38","author":"Jiang","year":"2016","unstructured":"Jiang JFDeng YXue WWang YFTian QJ & Sun AJ. Surgical Therapy of 17\u03b1-hydroxylase Deficiency in 30 Patients. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae201638559\u2013562. (https:\/\/doi.org\/10.3881\/j.issn.1000-503X.2016.05.012)"},{"key":"bib21","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"5739","article-title":"P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping","volume":"88","author":"Martin","year":"2003","unstructured":"Martin RMLin CJCosta EMde Oliveira MLCarrilho AVillar HLongui CA & Mendonca BB. P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping. Journal of Clinical Endocrinology and Metabolism2003885739\u20135746. (https:\/\/doi.org\/10.1210\/jc.2003-030988)"},{"key":"bib22","series-title":"Journal of Steroid Biochemistry and Molecular Biology","first-page":"105899","article-title":"Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia","volume":"211","author":"Wang","year":"2021","unstructured":"Wang WHan RYang ZZheng SLi HWan ZQi YSun SYe L & Ning G. Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia. Journal of Steroid Biochemistry and Molecular Biology2021211105899. (https:\/\/doi.org\/10.1016\/j.jsbmb.2021.105899)"},{"key":"bib23","series-title":"Steroids","first-page":"81","article-title":"Long-term treatment of mineralocorticoid excess syndromes","volume":"60","author":"Mantero","year":"1995","unstructured":"Mantero FOpocher GRocco SCarpen\u00e8 G & Armanini D. Long-term treatment of mineralocorticoid excess syndromes. Steroids19956081\u201386. (https:\/\/doi.org\/10.1016\/0039-128x(9400018-8)"},{"key":"bib24","series-title":"Annales d'Endocrinologie","first-page":"71","article-title":"A late 17\u03b1-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation","volume":"76","author":"Guenego","year":"2015","unstructured":"Guenego AMorel YIonesco OMallet D & Priou-Guesdon M. A late 17\u03b1-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation. Annales d'Endocrinologie20157671\u201374. 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