{"id":163,"date":"2011-06-07T19:18:42","date_gmt":"2011-06-07T19:18:42","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=163"},"modified":"2011-06-07T19:18:42","modified_gmt":"2011-06-07T19:18:42","slug":"xx-males-sry-negative-a-confirmed-cause-of-infertility","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/06\/07\/xx-males-sry-negative-a-confirmed-cause-of-infertility\/","title":{"rendered":"XX males SRY negative: a confirmed cause of infertility"},"content":{"rendered":"<p>Males with a 46,XX karyotype have in most of the cases the <em>SRY <\/em>gene translocated to one X chromosome<em>.<\/em> <em>SRY<\/em> initiates the cascade leading to testis differentiation having <em>SOX9<\/em> gene as first target.<em> <\/em>We present two XX brothers with normal male differentiation, hypotrophic testes and azoospermia, both negative to <em>SRY<\/em>. Array-CGH identified an amplification of a 96 kb region, 500 kb upstream to <em>SOX9 <\/em>promoter. The report of a similar family in which a larger amplification was transmitted <em>through normal fertile XY males, highlights that <\/em>male differentiation may not be strictly depending on the presence of the <em>SRY<\/em> gene and that alterations within gene desert regions can significantly reverberate on the phenotype. (By Dr Orsetta Zuffardi, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/06\/07\/jmedgenet-2011-100036.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/06\/07\/jmedgenet-2011-100036.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Males with a 46,XX karyotype have in most of the cases the SRY gene translocated to one X chromosome. SRY initiates the cascade leading to testis differentiation having SOX9 gene as first target. We present two XX brothers with normal male differentiation, hypotrophic testes and azoospermia, both negative to SRY. Array-CGH identified an amplification of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/06\/07\/xx-males-sry-negative-a-confirmed-cause-of-infertility\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-163","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/163","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=163"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/163\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=163"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=163"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=163"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}