{"id":163,"date":"2011-06-07T19:18:42","date_gmt":"2011-06-07T19:18:42","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=163"},"modified":"2026-02-25T21:06:49","modified_gmt":"2026-02-25T21:06:49","slug":"xx-males-sry-negative-a-confirmed-cause-of-infertility","status":"publish","type":"post","link":"https:\/\/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 (Contributed by Dr Orsetta Zuffardi)"},"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. 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. (<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:\/\/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":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-163","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>XX males SRY negative: a confirmed cause of infertility (Contributed by Dr Orsetta Zuffardi) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/07\/xx-males-sry-negative-a-confirmed-cause-of-infertility\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"XX males SRY negative: a confirmed cause of infertility (Contributed by Dr Orsetta Zuffardi) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"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 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/07\/xx-males-sry-negative-a-confirmed-cause-of-infertility\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-06-07T19:18:42+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T21:06:49+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/07\\\/xx-males-sry-negative-a-confirmed-cause-of-infertility\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/07\\\/xx-males-sry-negative-a-confirmed-cause-of-infertility\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"XX males SRY negative: a confirmed cause of infertility (Contributed by Dr Orsetta Zuffardi)\",\"datePublished\":\"2011-06-07T19:18:42+00:00\",\"dateModified\":\"2026-02-25T21:06:49+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/07\\\/xx-males-sry-negative-a-confirmed-cause-of-infertility\\\/\"},\"wordCount\":134,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/07\\\/xx-males-sry-negative-a-confirmed-cause-of-infertility\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/07\\\/xx-males-sry-negative-a-confirmed-cause-of-infertility\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/07\\\/xx-males-sry-negative-a-confirmed-cause-of-infertility\\\/\",\"name\":\"XX males SRY negative: a confirmed cause of infertility (Contributed by Dr Orsetta Zuffardi) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"XX males SRY negative: a confirmed cause of infertility (Contributed by Dr Orsetta Zuffardi) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/07\/xx-males-sry-negative-a-confirmed-cause-of-infertility\/","og_locale":"en_US","og_type":"article","og_title":"XX males SRY negative: a confirmed cause of infertility (Contributed by Dr Orsetta Zuffardi) - JMG Contact blog","og_description":"Males with a 46,XX karyotype have in most of the cases the SRY gene translocated to one X chromosome. 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