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The patient was aged 15 years and 3 months and she was diagnosed with 17OHD while she was being evaluated for complaints of delayed puberty. In the present case, p.Y27*(c.81C&gt;A) mutation was revealed in the sequence analysis of the<\/jats:p>","DOI":"10.1515\/jpem-2014-0444","type":"journal-article","created":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T17:23:26Z","timestamp":1424712206000},"source":"Crossref","is-referenced-by-count":13,"title":["17\u03b1-Hydroylase\/17,20-lyase deficiency related to P.Y27*(c.81C&gt;A) mutation in CYP17A1 gene"],"prefix":"10.1515","volume":"28","author":[{"given":"Melik\u015fah","family":"Keskin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aylin K\u0131l\u0131n\u00e7","family":"U\u011furlu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015eenay","family":"Sava\u015f-Erdeve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif","family":"Sa\u011fsak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sare G\u00fclfem","family":"Aky\u00fcz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Semra","family":"\u00c7etinkaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehra","family":"Aycan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref21","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/0960-0760(93)90129-K","article-title":"Diagnosis treatment of hydroxylase deficiency Bio","volume":"17","author":"Peter","year":"1993","journal-title":"J Steroid Biochem"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1210\/jc.2003-031021","article-title":"Congenital Adrenal Hyperplasia Multicenter Study Group Two prevalent CYP mutations and genotype - 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