{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T15:59:20Z","timestamp":1761926360016,"version":"build-2065373602"},"reference-count":2,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2001]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; 17\u03b1-Hydroxylase\/17,20-lyase deficiency is caused by a defect of P450c17 which catalyzes both 17\u03b1-hydroxylase and 17,20-lyase reactions in adrenal glands and gonads. &lt;i&gt;Results:&lt;\/i&gt; In the present study, we analyzed the &lt;i&gt;CYP17&lt;\/i&gt; gene in a Japanese patient with 17\u03b1-hydroxylase\/17,20-lyase deficiency. The patient was a phenotypic girl and referred to us for right-sided inguinal hernia at the age of 4 years. Biopsy of the herniated gonad showed testicular tissue. The karyotype was 46,XY. At 6 years of age, hypertension was clearly recognized and the patient was diagnosed as having 17\u03b1-hydroxylase\/17,20-lyase deficiency based on the clinical and laboratory findings. Analysis of the &lt;i&gt;CYP17&lt;\/i&gt; gene revealed a compound heterozygous mutation. One mutation was an undescribed single nucleotide deletion at codon 247 in exon 4 (CTT to CT: 247delT) and the other was a missense mutation resulting in a substitution of His to Leu at codon 373 in exon 6 (CAC to CTC: H373L), which has been previously shown to abolish both 17\u03b1-hydroxylase and 17,20-lyase activities. The functional expression study of the 247delT mutant showed that this 247delT mutation completely eliminates both 17\u03b1-hydroxylase and 17,20-lyase activities. &lt;i&gt;Conclusions:&lt;\/i&gt; Together, these results indicate that the patient is a compound heterozygote for the mutation of the &lt;i&gt;CYP17&lt;\/i&gt; gene (247delT and H373L) and that these mutations inactivate both 17\u03b1-hydroxylase and 17,20-lyase activities and give rise to clinically manifest 17\u03b1-hydroxylase\/17,20-lyase deficiency.<\/jats:p>","DOI":"10.1159\/000049986","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T10:10:37Z","timestamp":1050401437000},"page":"141-146","source":"Crossref","is-referenced-by-count":15,"title":["New Compound Heterozygous Mutation in the &lt;i&gt;CYP17&lt;\/i&gt; Gene in a 46,XY Girl with 17\u03b1-Hydroxylase\/17,20-Lyase Deficiency"],"prefix":"10.1159","volume":"55","author":[{"given":"Noriyuki","family":"Katsumata","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Satoh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Mikami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoko","family":"Mikami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsuko","family":"Nagashima-Miyokawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoko","family":"Sato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susumu","family":"Yokoya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiaki","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2001,9,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0303-7207(88)90110-4"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1017\/S0003480097006180"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/49986","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/49986","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:19:03Z","timestamp":1745468343000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000049986"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001]]},"references-count":2,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2001,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000049986","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2001]]}}}