{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T05:03:23Z","timestamp":1793423003420,"version":"4.5.0"},"reference-count":30,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82270871"],"award-info":[{"award-number":["82270871"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Steroids"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1016\/j.steroids.2025.109562","type":"journal-article","created":{"date-parts":[[2025,1,26]],"date-time":"2025-01-26T17:20:28Z","timestamp":1737912028000},"page":"109562","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Novel compound heterozygous CYP17A1 mutations identified in a family with two siblings affected by 17\u03b1-hydroxylase\/17,20-lyase deficiency"],"prefix":"10.1016","volume":"214","author":[{"given":"Rongbo","family":"He","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaoshi","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongqi","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rourou","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Qian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.steroids.2025.109562_b0005","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/j.ecl.2017.01.008","article-title":"Genetics of Congenital Adrenal Hyperplasia","volume":"46","author":"Hannah-Shmouni","year":"2017","journal-title":"Endocrinol. Metab. Clin. North Am."},{"key":"10.1016\/j.steroids.2025.109562_b0010","series-title":"Williams textbook of endocrinology","author":"Williams","year":"2003"},{"issue":"10108","key":"10.1016\/j.steroids.2025.109562_b0015","doi-asserted-by":"crossref","first-page":"2194","DOI":"10.1016\/S0140-6736(17)31431-9","article-title":"Congenital adrenal hyperplasia","volume":"390","author":"El-Maouche","year":"2017","journal-title":"Lancet"},{"issue":"Pt A","key":"10.1016\/j.steroids.2025.109562_b0020","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.jsbmb.2016.02.002","article-title":"Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic","volume":"165","author":"Auchus","year":"2017","journal-title":"J. Steroid Biochem. Mol. Biol."},{"key":"10.1016\/j.steroids.2025.109562_b0025","series-title":"Growth at adolescence, with a general consideration of the effects of hereditary and environmental factors upon growth and maturation from birth to maturity","author":"Tanner","year":"1962"},{"issue":"5","key":"10.1016\/j.steroids.2025.109562_b0030","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"issue":"1","key":"10.1016\/j.steroids.2025.109562_b0035","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s12020-021-02966-w","article-title":"High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17alpha-hydroxylase deficiency","volume":"76","author":"Zhao","year":"2022","journal-title":"Endocrine"},{"issue":"1","key":"10.1016\/j.steroids.2025.109562_b0040","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/s10157-016-1252-1","article-title":"Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel","volume":"21","author":"Mori","year":"2017","journal-title":"Clin. Exp. Nephrol."},{"issue":"9","key":"10.1016\/j.steroids.2025.109562_b0045","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s100380170032","article-title":"Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family","volume":"46","author":"Mizoguchi","year":"2001","journal-title":"J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.steroids.2025.109562_b0050","doi-asserted-by":"crossref","first-page":"170","DOI":"10.4158\/EP171987.OR","article-title":"17alpha-hydroxylase deficiency is an underdiagnosed disease: high frequency of misdiagnoses in a large cohort of brazilian patients","volume":"24","author":"Fontenele","year":"2018","journal-title":"Endocr. Pract."},{"issue":"1","key":"10.1016\/j.steroids.2025.109562_b0055","first-page":"48","article-title":"17 alpha-Hydroxylase deficiency: 1963-1966","volume":"82","author":"Biglieri","year":"1997","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"2","key":"10.1016\/j.steroids.2025.109562_b0060","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S0929-6646(09)60342-9","article-title":"Seventeen alpha-hydroxylase deficiency","volume":"105","author":"Wong","year":"2006","journal-title":"J. Formos. Med. Assoc."},{"issue":"5","key":"10.1016\/j.steroids.2025.109562_b0065","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1089\/dna.1987.6.439","article-title":"Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase\/17,20 lyase): similarity with the gene for P450c21","volume":"6","author":"Picado-Leonard","year":"1987","journal-title":"DNA"},{"issue":"3","key":"10.1016\/j.steroids.2025.109562_b0070","doi-asserted-by":"crossref","first-page":"R125","DOI":"10.1530\/EJE-18-0279","article-title":"Mechanisms in endocrinology: Rare defects in adrenal steroidogenesis","volume":"179","author":"Miller","year":"2018","journal-title":"Eur. J. Endocrinol."},{"issue":"1","key":"10.1016\/j.steroids.2025.109562_b0075","doi-asserted-by":"crossref","first-page":"339","DOI":"10.3892\/mmr.2016.6029","article-title":"17alpha\u2011hydroxylase\/17,20\u2011lyase deficiency in congenital adrenal hyperplasia: A case report","volume":"15","author":"Xu","year":"2017","journal-title":"Mol. Med. Rep."},{"issue":"7","key":"10.1016\/j.steroids.2025.109562_b0080","doi-asserted-by":"crossref","first-page":"4362","DOI":"10.1210\/jc.2005-0136","article-title":"17alpha-hydroxylase\/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene","volume":"90","author":"Mussig","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"1","key":"10.1016\/j.steroids.2025.109562_b0085","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1210\/jc.2003-031021","article-title":"Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency","volume":"89","author":"Costa-Santos","year":"2004","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"2","key":"10.1016\/j.steroids.2025.109562_b0090","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/S0889-8529(18)30101-4","article-title":"Disorders of steroid 17 alpha-hydroxylase deficiency","volume":"23","author":"Kater","year":"1994","journal-title":"Endocrinol. Metab. Clin. North Am."},{"issue":"6","key":"10.1016\/j.steroids.2025.109562_b0095","doi-asserted-by":"crossref","first-page":"456","DOI":"10.3109\/09513590.2014.895980","article-title":"CYP17A1 gene mutations and hypertension variations found in 46, XY females with combined 17alpha-hydroxylase\/17, 20-lyase deficiency","volume":"30","author":"Wang","year":"2014","journal-title":"Gynecol. Endocrinol."},{"issue":"9","key":"10.1016\/j.steroids.2025.109562_b0100","doi-asserted-by":"crossref","first-page":"3619","DOI":"10.1210\/jc.2005-2283","article-title":"Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase\/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene","volume":"91","author":"Yang","year":"2006","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"3","key":"10.1016\/j.steroids.2025.109562_b0105","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1210\/jc.2006-1486","article-title":"P450c17 deficiency: clinical and molecular characterization of six patients","volume":"92","author":"Rosa","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"1","key":"10.1016\/j.steroids.2025.109562_b0110","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/0039-128X(94)00018-8","article-title":"Long-term treatment of mineralocorticoid excess syndromes","volume":"60","author":"Mantero","year":"1995","journal-title":"Steroids"},{"issue":"5","key":"10.1016\/j.steroids.2025.109562_b0115","first-page":"559","article-title":"Surgical Therapy of 17alpha-hydroxylase Deficiency in 30 Patients","volume":"38","author":"Jiang","year":"2016","journal-title":"Zhongguo Yi Xue Ke Xue Yuan Xue Bao"},{"issue":"2","key":"10.1016\/j.steroids.2025.109562_b0120","first-page":"627","article-title":"Evaluation of gonadal function in 107 intersex patients by means of serum antimullerian hormone measurement","volume":"84","author":"Rey","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.steroids.2025.109562_b0125","article-title":"Anti-mullerian hormone and its clinical use in pediatrics with special emphasis on disorders of sex development, Int","volume":"2013","author":"Lindhardt Johansen","year":"2013","journal-title":"J. Endocrinol."},{"issue":"1","key":"10.1016\/j.steroids.2025.109562_b0130","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/s40746-016-0039-7","article-title":"Current Management of Undescended Testes","volume":"2","author":"Kurz","year":"2016","journal-title":"Curr. Treat. Options Pediatr."},{"issue":"3","key":"10.1016\/j.steroids.2025.109562_b0135","first-page":"158","article-title":"Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care, Horm Res","volume":"85","author":"Lee","year":"2016","journal-title":"Paediatr"},{"issue":"4","key":"10.1016\/j.steroids.2025.109562_b0140","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1111\/cen.13255","article-title":"Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence","volume":"86","author":"Huang","year":"2017","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.steroids.2025.109562_b0145","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2022.919670","article-title":"Testicular Sertoli Cell Hormones in Differences in Sex Development","volume":"13","author":"Lucas-Herald","year":"2022","journal-title":"Front Endocrinol (lausanne)"},{"key":"10.1016\/j.steroids.2025.109562_b0150","series-title":"17-Hydroxylase Deficiency","author":"Chormanski","year":"2024"}],"container-title":["Steroids"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0039128X25000030?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0039128X25000030?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T06:25:53Z","timestamp":1740464753000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0039128X25000030"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":30,"alternative-id":["S0039128X25000030"],"URL":"https:\/\/doi.org\/10.1016\/j.steroids.2025.109562","relation":{},"ISSN":["0039-128X"],"issn-type":[{"value":"0039-128X","type":"print"}],"subject":[],"published":{"date-parts":[[2025,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel compound heterozygous CYP17A1 mutations identified in a family with two siblings affected by 17\u03b1-hydroxylase\/17,20-lyase deficiency","name":"articletitle","label":"Article Title"},{"value":"Steroids","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.steroids.2025.109562","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"109562"}}