{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T11:51:50Z","timestamp":1782301910745,"version":"3.54.5"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,10,27]],"date-time":"2014-10-27T00:00:00Z","timestamp":1414368000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2015,3]]},"abstract":"Summary<\/jats:title>\n \n Objective<\/jats:title>\n \n Deficiency of \u0394\n 4<\/jats:sup>\n \u20103\u2010oxosteroid 5\u03b2\u2010reductase (5\u03b2\u2010reductase), a bile acid synthesis disorder, presents findings of neonatal cholestasis and hyper\u20103\u2010oxo\u2010\u0394\n 4<\/jats:sup>\n bile aciduria. The 5\u03b2\u2010reductase enzyme participates in not only bile acid synthesis but also hepatic steroid metabolism. Deficiency of 5\u03b2\u2010reductase includes 2 types: primary deficiency, with an\n \n SRD<\/jats:styled-content>\n 5B1\n <\/jats:italic>\n gene mutation; and secondary deficiency, lacking a mutation. Secondary deficiency is caused by fulminant liver failure from various aetiologies including neonatal hemochromatosis (\n NH<\/jats:styled-content>\n ). Distinguishing primary from secondary deficiency based on \u03b3\u2010glutamyltransferase (\n GGT<\/jats:styled-content>\n ), serum total bile acids (\n TBA<\/jats:styled-content>\n ), and urinary bile acid analysis using gas chromatography\u2013mass spectroscopy (\n GC<\/jats:styled-content>\n \u2010\n MS<\/jats:styled-content>\n ) is very difficult.\n \n SRD<\/jats:styled-content>\n 5B1\n <\/jats:italic>\n gene analysis is the only reliable method. We examined urinary steroid analysis as a way to distinguish primary from secondary 5\u03b2\u2010reductase deficiency.\n <\/jats:p>\n <\/jats:sec>\n \n Design, patients and measurements<\/jats:title>\n \n We examined 12 patients with cholestatic jaundice, normal or slightly elevated\n GGT<\/jats:styled-content>\n , and hyper\u20103\u2010oxo\u2010\u0394\n 4<\/jats:sup>\n bile aciduria using urinary steroid analysis by\n GC<\/jats:styled-content>\n \u2010\n MS<\/jats:styled-content>\n of both cortisol and cortisone compounds, such as 5\u03b2\u2010tetrahydrocortisol (5\u03b2\u2010\n THF<\/jats:styled-content>\n ) and 5\u03b2\u2010tetrahydrocortisone (5\u03b2\u2010\n THE<\/jats:styled-content>\n ). Patients previously were diagnosed with primary 5\u03b2\u2010reductase deficiency (\n n<\/jats:italic>\n \u00a0=\u00a03), deficiency secondary to\n NH<\/jats:styled-content>\n (\n n<\/jats:italic>\n \u00a0=\u00a03) and deficiency secondary to other liver disorders (\n n<\/jats:italic>\n \u00a0=\u00a06).\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Urinary steroid analysis in 3 primary deficiency and 3\n NH<\/jats:styled-content>\n patients showed low 5\u03b2\u2010\n THE<\/jats:styled-content>\n and elevated 5\u03b1\/5\u03b2\u2010\n THE<\/jats:styled-content>\n ratios, making distinction difficult without also considering the clinical course and abdominal magnetic resonance imaging (\n MRI<\/jats:styled-content>\n ) findings, such as a very low signal intensity in liver and\/or pancreas, especially in T\n 2<\/jats:sub>\n \u2010weighted images. In the six patients with other secondary deficiencies, urinary 5\u03b2\u2010\n THF<\/jats:styled-content>\n and 5\u03b1\/5\u03b2\u2010\n THF<\/jats:styled-content>\n differed from those in primary deficiency (\n P<\/jats:italic>\n \u00a0<\u00a00\u00b705).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Urinary steroid analysis can distinguish primary and\n NH<\/jats:styled-content>\n \u2010related deficiencies from other secondary deficiencies.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/cen.12596","type":"journal-article","created":{"date-parts":[[2014,8,22]],"date-time":"2014-08-22T09:53:17Z","timestamp":1408701197000},"page":"346-351","source":"Crossref","is-referenced-by-count":5,"title":["Distinguishing primary from secondary \u0394\n 4<\/sup>\n \u20103\u2010oxosteroid 5\u03b2\u2010reductase (\n \n SRD<\/scp>\n 5B1,\n AKR<\/scp>\n 1D1\n <\/i>\n ) deficiency by urinary steroid analysis"],"prefix":"10.1111","volume":"82","author":[{"given":"Tadahiro","family":"Yanagi","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuki","family":"Mizuochi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Kurume Japan"},{"name":"Division of Gastroenterology Hepatology and Nutrition Cincinnati Children's Hospital Medical Center Cincinnati OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Homma","sequence":"additional","affiliation":[{"name":"Central Clinical Laboratories Keio University Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isao","family":"Ueki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshitaka","family":"Seki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajime","family":"Takei","sequence":"additional","affiliation":[{"name":"Institution of Bile Acid Junshin Clinic Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Nittono","sequence":"additional","affiliation":[{"name":"Institution of Bile Acid Junshin Clinic Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takao","family":"Kurosawa","sequence":"additional","affiliation":[{"name":"Faculty of Pharmaceutical Sciences Health Sciences University of Hokkaido Hokkaido Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toyojiro","family":"Matsuishi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiko","family":"Kimura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Kurume University School of Medicine Kurume 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