{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:00Z","timestamp":1784557020646,"version":"3.55.0"},"reference-count":10,"publisher":"Bioscientifica","issue":"3","license":[{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,7,1]]},"abstract":"\n Summary<\/jats:title>\n 17\u03b1-hydroxylase deficiency (17\u03b1-OHD) is a rare form of congenital adrenal hyperplasia. We report the case of a teenage girl with 17\u03b1-OHD who presented with delayed puberty, hypergonadotropic hypogonadism and hypertension. We illustrate the clinical approach in workup, the subsequent management and monitoring of this rare condition.<\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n 17\u03b1-hydroxylase deficiency (17\u03b1-OHD) should be considered as a rare yet important differential diagnosis of girls with delayed puberty and elevated gonadotropins.<\/jats:p>\n <\/jats:list-item>\n \n Urine steroid profile, plasma aldosterone and renin levels should be assessed in adolescent girls with hypergonadotropic hypogonadism, after the exclusion of more common conditions, e.g. Turner syndrome.<\/jats:p>\n <\/jats:list-item>\n \n Inhibiting deoxycorticosterone (DOC) release by partial glucocorticoid replacement, counteracting DOC\u2019s mineralocorticoid effects by antagonists (such as eplerenone or spironolactone) as well as sex hormone replacements constitute the major backbone in the management of 17\u03b1-OHD.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-23-0047","type":"journal-article","created":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T09:23:15Z","timestamp":1695633795000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["A Chinese girl with delayed puberty due to 17\u03b1-hydroxylase deficiency: the diagnosis, treatment and monitoring approach"],"prefix":"10.1530","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-8886-3124","authenticated-orcid":true,"given":"Geoffrey Chek Fei","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming-kut","family":"Tay","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Tseung Kwan O Hospital, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sammy Pak-lam","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Chemical Pathology, Department of Pathology, Queen Elizabeth Hospital, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei Tik Stella","family":"Leung","sequence":"additional","affiliation":[{"name":"Division of Chemical Pathology, Department of Pathology, Queen Elizabeth Hospital, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7897-716X","authenticated-orcid":true,"given":"Joanna Yuet-ling","family":"Tung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Hong Kong Children\u2019s Hospital, Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Clinical Case Reports","first-page":"e6109","article-title":"17 alpha-hydroxylase deficiency: a case report of young Chinese woman with a rare gene mutation","volume":"10","author":"Han","year":"2022","unstructured":"Han LHWang L & Wu XY. 17 alpha-hydroxylase deficiency: a case report of young Chinese woman with a rare gene mutation. Clinical Case Reports202210e6109. (https:\/\/doi.org\/10.1002\/ccr3.6109)"},{"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(Pt A)","author":"Auchus","year":"2017","unstructured":"Auchus R JSteroid 17-Hydroxylase and 17,20-Lyase Deficiencies, Genetic and Pharmacologic . Journal of Steroid Biochemistry and Molecular Biology 2017165(Pt A)71\u2212 78. ( https:\/\/doi.org\/10.1016\/j.jsbmb.2016.02.002)"},{"key":"bib3","series-title":"Beijing Da Xue Xue Bao","first-page":"221","article-title":"Diagnosis and treatment of 17 alpha-hydroxylase deficiency: a case report and literature review","volume":"40","author":"Zhang","year":"2008","unstructured":"Zhang Lning WH & pei HT. Diagnosis and treatment of 17 alpha-hydroxylase deficiency: a case report and literature review. Beijing Da Xue Xue Bao200840221\u2013222."},{"key":"bib4","series-title":"Journal of Clinical Investigation","first-page":"1946","article-title":"17-hydroxylation deficiency in man","volume":"45","author":"Biglieri","year":"1966","unstructured":"Biglieri EGHerron MA & Brust N. 17-hydroxylation deficiency in man. Journal of Clinical Investigation1966451946\u20131954. (https:\/\/doi.org\/10.1172\/JCI105499)"},{"key":"bib5","series-title":"Clinical Hypertension","first-page":"23","article-title":"Prevalence of CYP17A1 gene mutations in 17\u03b1-hydroxylase deficiency in the Chinese Han population","volume":"25","author":"Wang","year":"2019","unstructured":"Wang MWang HZhao HLi LLiu MLiu FMeng F & Fan C. Prevalence of CYP17A1 gene mutations in 17\u03b1-hydroxylase deficiency in the Chinese Han population. Clinical Hypertension20192523. (https:\/\/doi.org\/10.1186\/s40885-019-0128-6)"},{"key":"bib6","series-title":"Journal of Pediatric Endocrinology and 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 and Metabolism201528919\u2013921. (https:\/\/doi.org\/10.1515\/jpem-2014-0444)"},{"key":"bib7","series-title":"Endocrine","first-page":"151","article-title":"High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17\u03b1-hydroxylase deficiency","volume":"76","author":"Zhao","year":"2022","unstructured":"Zhao ZLu LWang OWu XSun BZhang WWang XMao JChen STong A, High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17\u03b1-hydroxylase deficiency. Endocrine202276151\u2013161. (https:\/\/doi.org\/10.1007\/s12020-021-02966-w)"},{"key":"bib8","series-title":"Fertility and Sterility","first-page":"317","article-title":"Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase\/17,20-lyase deficiency and isolated 17,20-lyase deficiency","volume":"101","author":"Marsh","year":"2014","unstructured":"Marsh CA & Auchus RJ. Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase\/17,20-lyase deficiency and isolated 17,20-lyase deficiency. Fertility and Sterility2014101317\u2013322. (https:\/\/doi.org\/10.1016\/j.fertnstert.2013.11.011)"},{"key":"bib9","series-title":"Journal of Clinical Endocrinology and Metabolism","first-page":"345","article-title":"Successful live birth in a woman with 17\u03b1-hydroxylase deficiency through IVF frozen-thawed embryo Transfer.pdf","volume":"101","author":"Bianchi","year":"2016","unstructured":"Bianchi PHGouveia GRCosta EMDomenice SMartin RMde Carvalho LCPelaes TInacio MCodarin RRSator de Faria MB, Successful live birth in a woman with 17\u03b1-hydroxylase deficiency through IVF frozen-thawed embryo Transfer.pdf. Journal of Clinical Endocrinology and Metabolism2016101345\u2013348. (https:\/\/doi.org\/10.1210\/jc.2015-3201)"},{"key":"bib10","series-title":"Endocrine Reviews","first-page":"1605","article-title":"Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism","volume":"40","author":"Storbeck","year":"2019","unstructured":"Storbeck KHSchiffer LBaranowski ESChortis VPrete ABarnard LGilligan LCTaylor AEIdkowiak JArlt W, Steroid metabolome analysis in disorders of adrenal steroid biosynthesis and metabolism. Endocrine Reviews2019401605\u20131625. 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