{"id":1322,"date":"2019-08-20T16:42:23","date_gmt":"2019-08-20T16:42:23","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1322"},"modified":"2026-02-24T00:31:53","modified_gmt":"2026-02-24T00:31:53","slug":"new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/","title":{"rendered":"New insights into 5\u03b1-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype\u2013phenotype profiling of SRD5A2 in 190 Chinese patients (Contributed by Baoheng Gui\u00a0and Prof. Chunxiu Gong)"},"content":{"rendered":"<p>The 5\u03b1-reductase type 2 (5\u03b1-RD2) deficiency caused by mutations in the steroid 5\u03b1-reductase 2 (<em>SRD5A2<\/em>) gene results in variable degrees of undervirilization in patients with 46,XY disorders of sex development. Through a multi-center cooperative effort, 190 Chinese subjects diagnosed with 5\u03b1-RD2 deficiency were consecutively enrolled, representing the largest case number so far. Based on this, the study characterized in detail the phenotypic features of 5\u03b1-RD2 deficiency and the regional distribution of <em>SRD5A2 <\/em>mutations in Chinese population. Several variants were highly prevalent, with distinctive distribution patterns between North and South China, suggesting a putative founder gene effect in the population. Furthermore, thirteen novel variants of <em>SRD5A2<\/em> were identified, further expanding its mutational spectrum. Additionally, genotype-phenotype correlation analysis provided critical evidence that different variants of <em>SRD5A2<\/em> may be correlated with the expressivity of the disease. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/06\/11\/jmedgenet-2018-105915\">https:\/\/jmg.bmj.com\/content\/early\/2019\/06\/11\/jmedgenet-2018-105915<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/figure-1-4\/\" rel=\"attachment wp-att-1323\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1323\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-1-300x188.jpg\" alt=\"\" width=\"300\" height=\"188\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-1-300x188.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-1-640x401.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-1.jpg 762w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Distribution of the enrolled subjects with 5\u03b1-Reductase-2 deficiency from multiple centers in China (Center 1 to Center 8)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The 5\u03b1-reductase type 2 (5\u03b1-RD2) deficiency caused by mutations in the steroid 5\u03b1-reductase 2 (SRD5A2) gene results in variable degrees of undervirilization in patients with 46,XY disorders of sex development. Through a multi-center cooperative effort, 190 Chinese subjects diagnosed with 5\u03b1-RD2 deficiency were consecutively enrolled, representing the largest case number so far. Based on this, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/\">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-1322","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>New insights into 5\u03b1-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype\u2013phenotype profiling of SRD5A2 in 190 Chinese patients (Contributed by Baoheng Gui\u00a0and Prof. Chunxiu Gong) - 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\/2019\/08\/20\/new-insights-into-5\u03b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"New insights into 5\u03b1-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype\u2013phenotype profiling of SRD5A2 in 190 Chinese patients (Contributed by Baoheng Gui\u00a0and Prof. Chunxiu Gong) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The 5\u03b1-reductase type 2 (5\u03b1-RD2) deficiency caused by mutations in the steroid 5\u03b1-reductase 2 (SRD5A2) gene results in variable degrees of undervirilization in patients with 46,XY disorders of sex development. Through a multi-center cooperative effort, 190 Chinese subjects diagnosed with 5\u03b1-RD2 deficiency were consecutively enrolled, representing the largest case number so far. Based on this, [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5\u03b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-08-20T16:42:23+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:31:53+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"762\" \/>\n\t<meta property=\"og:image:height\" content=\"478\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"New insights into 5\u03b1-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype\u2013phenotype profiling of SRD5A2 in 190 Chinese patients (Contributed by Baoheng Gui\u00a0and Prof. Chunxiu Gong)\",\"datePublished\":\"2019-08-20T16:42:23+00:00\",\"dateModified\":\"2026-02-24T00:31:53+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/\"},\"wordCount\":189,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/08\\\/Figure-1-300x188.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/\",\"name\":\"New insights into 5\u03b1-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype\u2013phenotype profiling of SRD5A2 in 190 Chinese patients (Contributed by Baoheng Gui\u00a0and Prof. Chunxiu Gong) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/08\\\/Figure-1-300x188.jpg\",\"datePublished\":\"2019-08-20T16:42:23+00:00\",\"dateModified\":\"2026-02-24T00:31:53+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/#primaryimage\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/08\\\/Figure-1.jpg\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/08\\\/Figure-1.jpg\",\"width\":762,\"height\":478},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"New insights into 5\u03b1-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype\u2013phenotype profiling of SRD5A2 in 190 Chinese patients (Contributed by Baoheng Gui\u00a0and Prof. Chunxiu Gong)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). 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":"New insights into 5\u03b1-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype\u2013phenotype profiling of SRD5A2 in 190 Chinese patients (Contributed by Baoheng Gui\u00a0and Prof. Chunxiu Gong) - 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\/2019\/08\/20\/new-insights-into-5\u03b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/","og_locale":"en_US","og_type":"article","og_title":"New insights into 5\u03b1-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype\u2013phenotype profiling of SRD5A2 in 190 Chinese patients (Contributed by Baoheng Gui\u00a0and Prof. Chunxiu Gong) - JMG Contact blog","og_description":"The 5\u03b1-reductase type 2 (5\u03b1-RD2) deficiency caused by mutations in the steroid 5\u03b1-reductase 2 (SRD5A2) gene results in variable degrees of undervirilization in patients with 46,XY disorders of sex development. Through a multi-center cooperative effort, 190 Chinese subjects diagnosed with 5\u03b1-RD2 deficiency were consecutively enrolled, representing the largest case number so far. Based on this, [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5\u03b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/","og_site_name":"JMG Contact blog","article_published_time":"2019-08-20T16:42:23+00:00","article_modified_time":"2026-02-24T00:31:53+00:00","og_image":[{"width":762,"height":478,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-1.jpg","type":"image\/jpeg"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"New insights into 5\u03b1-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype\u2013phenotype profiling of SRD5A2 in 190 Chinese patients (Contributed by Baoheng Gui\u00a0and Prof. Chunxiu Gong)","datePublished":"2019-08-20T16:42:23+00:00","dateModified":"2026-02-24T00:31:53+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/"},"wordCount":189,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-1-300x188.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/","url":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/","name":"New insights into 5\u03b1-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype\u2013phenotype profiling of SRD5A2 in 190 Chinese patients (Contributed by Baoheng Gui\u00a0and Prof. Chunxiu Gong) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"primaryImageOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/#primaryimage"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-1-300x188.jpg","datePublished":"2019-08-20T16:42:23+00:00","dateModified":"2026-02-24T00:31:53+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/#primaryimage","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-1.jpg","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-1.jpg","width":762,"height":478},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/new-insights-into-5%ce%b1-reductase-type-2-deficiency-based-on-a-multi-centre-study-regional-distribution-and-genotype-phenotype-profiling-of-srd5a2-in-190-chinese-patients\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"New insights into 5\u03b1-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype\u2013phenotype profiling of SRD5A2 in 190 Chinese patients (Contributed by Baoheng Gui\u00a0and Prof. Chunxiu Gong)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). 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\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1322","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=1322"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1322\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1322"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1322"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1322"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}