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Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the<\/jats:p>","DOI":"10.1515\/jpem-2014-0071","type":"journal-article","created":{"date-parts":[[2014,8,5]],"date-time":"2014-08-05T17:03:50Z","timestamp":1407258230000},"source":"Crossref","is-referenced-by-count":8,"title":["Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report"],"prefix":"10.1515","volume":"28","author":[{"given":"G\u00fcl Yesiltepe","family":"Mutlu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heves","family":"K\u0131rm\u0131z\u0131bekmez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hatip","family":"Ayd\u0131n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Handan","family":"\u00c7etiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serdar","family":"Moral\u0131o\u011flu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ay\u015fenur Cerrah","family":"Celayir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref191","first-page":"18","article-title":"Sexual differentiation","author":"Ostrer","year":"2000","journal-title":"Semin Reprod Med"},{"key":"ref251","first-page":"85","article-title":"Familial sex reversal a","author":"Sarafoglou","year":"2000","journal-title":"review J Clin Endocrinol Metab"},{"key":"ref281","first-page":"319","article-title":"Disorders of sexual differentiation In editor Pediatric endocrinology New York Marcel","author":"Adriana","year":"2003"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1046\/j.1365-2605.2000.00229.x","article-title":"Regulation of inhibin production in the human male and its clinical applications","volume":"23","author":"Anderson","year":"2000","journal-title":"Int J Androl"},{"key":"ref11","first-page":"18","article-title":"Sexual differentiation","author":"Ostrer","year":"2000","journal-title":"Semin Reprod Med"},{"key":"ref81","first-page":"1","article-title":"Isolated gonadal dysgenesis in two sisters caused by a Xp interstitial duplication containing the DAX gene","volume":"21","author":"Barbaro","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"ref221","first-page":"1","article-title":"- de Heterozygous missense mutations in steroidogenic factor Ad BP NR are associated with disorders of sex development with normal adrenal function","volume":"4","author":"Lin","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"ref91","first-page":"127","article-title":"PA Ambiguous genitalia In editor Pediatric Philadelphia","author":"Witchel","year":"2008","journal-title":"endocrinology Science"},{"key":"ref271","first-page":"127","article-title":"PA Ambiguous genitalia In editor Pediatric Philadelphia","author":"Witchel","year":"2008","journal-title":"endocrinology Science"},{"key":"ref321","first-page":"842","article-title":"FA Disorders of sex differentiation In editors textbook of th ed Philadelphia","author":"Grumbach","year":"2003","journal-title":"endocrinology"},{"key":"ref41","first-page":"1","article-title":"- de Heterozygous missense mutations in steroidogenic factor Ad BP NR are associated with disorders of sex development with normal adrenal function","volume":"4","author":"Lin","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"ref351","first-page":"443","article-title":"Pregnancy and delivery in a patient with pure karyotype Summary of actual knowledge about XY women","author":"Pol\u00e1kov\u00e1","year":"2013"},{"key":"ref181","first-page":"709","article-title":"GI Male pseudohermaphroditism a hitherto undescribed form","volume":"12","author":"Swyer","year":"1955","journal-title":"Med"},{"key":"ref171","first-page":"443","article-title":"Pregnancy and delivery in a patient with pure karyotype Summary of actual knowledge about XY women","author":"Pol\u00e1kov\u00e1","year":"2013"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1046\/j.1365-2605.2000.00229.x","article-title":"Regulation of inhibin production in the human male and its clinical applications","volume":"23","author":"Anderson","year":"2000","journal-title":"Int J Androl"},{"key":"ref71","first-page":"85","article-title":"Familial sex reversal a","author":"Sarafoglou","year":"2000","journal-title":"review J Clin Endocrinol Metab"},{"key":"ref31","first-page":"99","article-title":"Mutations and sequence variants in the testis - 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