{"id":1452,"date":"2020-05-12T14:28:00","date_gmt":"2020-05-12T14:28:00","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1452"},"modified":"2026-02-24T00:05:35","modified_gmt":"2026-02-24T00:05:35","slug":"prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/12\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\/","title":{"rendered":"Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism (Contributed by Meichao Men)"},"content":{"rendered":"<p>Impaired development and function of GnRH neurons leads to isolated hypogonadotropic hypogonadism (IHH), characterized by delayed\/absent puberty and\/or infertility. IHH frequently associated with additional phenotypes, such as sensorineural deafness, coloboma, synkinesis, craniofacial abnormalities, and renal agenesis. In this report, we found DUSP6, an inhibitor of FGFR1, mutated in IHH in an autosomal dominant manner. IHH patients with loss-of-function DUSP6 mutations are enriched for additional skeletal phenotypes, cryptorchidism and blue color blindness. We this further added the association of IHH with limb malformation to a new clinical entity for DUSP6. However, one allelic mutation in other two FGFR 1 inhibitors, IL17RD or SPRY4, alone seemed not sufficient to cause IHH. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/05\/10\/jmedgenet-2019-106786\">https:\/\/jmg.bmj.com\/content\/early\/2020\/05\/10\/jmedgenet-2019-106786<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Impaired development and function of GnRH neurons leads to isolated hypogonadotropic hypogonadism (IHH), characterized by delayed\/absent puberty and\/or infertility. IHH frequently associated with additional phenotypes, such as sensorineural deafness, coloboma, synkinesis, craniofacial abnormalities, and renal agenesis. In this report, we found DUSP6, an inhibitor of FGFR1, mutated in IHH in an autosomal dominant manner. IHH [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/12\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\/\">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-1452","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism (Contributed by Meichao Men) - 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\/2020\/05\/12\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism (Contributed by Meichao Men) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Impaired development and function of GnRH neurons leads to isolated hypogonadotropic hypogonadism (IHH), characterized by delayed\/absent puberty and\/or infertility. IHH frequently associated with additional phenotypes, such as sensorineural deafness, coloboma, synkinesis, craniofacial abnormalities, and renal agenesis. In this report, we found DUSP6, an inhibitor of FGFR1, mutated in IHH in an autosomal dominant manner. IHH [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/12\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-05-12T14:28:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:05:35+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\\\/2020\\\/05\\\/12\\\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/12\\\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism (Contributed by Meichao Men)\",\"datePublished\":\"2020-05-12T14:28:00+00:00\",\"dateModified\":\"2026-02-24T00:05:35+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/12\\\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\\\/\"},\"wordCount\":143,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/12\\\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/12\\\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/12\\\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\\\/\",\"name\":\"Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism (Contributed by Meichao Men) - 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IHH [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/12\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\/","og_site_name":"JMG Contact blog","article_published_time":"2020-05-12T14:28:00+00:00","article_modified_time":"2026-02-24T00:05:35+00:00","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\/2020\/05\/12\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/12\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism (Contributed by Meichao Men)","datePublished":"2020-05-12T14:28:00+00:00","dateModified":"2026-02-24T00:05:35+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/12\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\/"},"wordCount":143,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2020\/05\/12\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/12\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\/","url":"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/12\/prevalence-and-associated-phenotypes-of-dusp6-il17rd-and-spry4-variants-in-a-large-chinese-cohort-with-isolated-hypogonadotropic-hypogonadism\/","name":"Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism (Contributed by Meichao Men) - 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