{"id":1295,"date":"2019-06-10T14:10:19","date_gmt":"2019-06-10T14:10:19","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1295"},"modified":"2026-02-24T00:37:45","modified_gmt":"2026-02-24T00:37:45","slug":"familial-bilateral-cryptorchidism-is-caused-by-recessive-variants-in-rxfp2","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/06\/10\/familial-bilateral-cryptorchidism-is-caused-by-recessive-variants-in-rxfp2\/","title":{"rendered":"Familial bilateral cryptorchidism is caused by recessive variants in RXFP2 (Contributed by Dr. Katie Ayers)"},"content":{"rendered":"

Undescended testes or cryptorchidism is when one or both testes do not move down into the scrotum once developed. Found in 1.6 to 9.0%\u00a0of boys, if left untreated, it can increase the risk of testicular cancer or infertility. We describe a family with four boys born with undescended testes. We identified a genetic change in the\u00a0RXFP2<\/em>\u00a0gene – present in two copies in the affected boys and in one copy in each unaffected parent. This genetic change causes the RXFP2 protein to lose its function. We conclude that changes to the\u00a0RXFP2<\/em> gene can cause cryptorchidism in families. (https:\/\/jmg.bmj.com\/content\/early\/2019\/06\/05\/jmedgenet-2019-106203<\/a> )<\/p>\n

\"\"<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Undescended testes or cryptorchidism is when one or both testes do not move down into the scrotum once developed. Found in 1.6 to 9.0%\u00a0of boys, if left untreated, it can increase the risk of testicular cancer or infertility. We describe a family with four boys born with undescended testes. We identified a genetic change in […]<\/p>\n

Read More…<\/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-1295","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nFamilial bilateral cryptorchidism is caused by recessive variants in RXFP2 (Contributed by Dr. Katie Ayers) - 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\/06\/10\/familial-bilateral-cryptorchidism-is-caused-by-recessive-variants-in-rxfp2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Familial bilateral cryptorchidism is caused by recessive variants in RXFP2 (Contributed by Dr. Katie Ayers) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Undescended testes or cryptorchidism is when one or both testes do not move down into the scrotum once developed. Found in 1.6 to 9.0%\u00a0of boys, if left untreated, it can increase the risk of testicular cancer or infertility. We describe a family with four boys born with undescended testes. We identified a genetic change in [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/06\/10\/familial-bilateral-cryptorchidism-is-caused-by-recessive-variants-in-rxfp2\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-06-10T14:10:19+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:37:45+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/06\/Untitled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1464\" \/>\n\t<meta property=\"og:image:height\" content=\"1051\" \/>\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\\\/06\\\/10\\\/familial-bilateral-cryptorchidism-is-caused-by-recessive-variants-in-rxfp2\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/06\\\/10\\\/familial-bilateral-cryptorchidism-is-caused-by-recessive-variants-in-rxfp2\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Familial bilateral cryptorchidism is caused by recessive variants in RXFP2 (Contributed by Dr. Katie Ayers)\",\"datePublished\":\"2019-06-10T14:10:19+00:00\",\"dateModified\":\"2026-02-24T00:37:45+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/06\\\/10\\\/familial-bilateral-cryptorchidism-is-caused-by-recessive-variants-in-rxfp2\\\/\"},\"wordCount\":121,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/06\\\/10\\\/familial-bilateral-cryptorchidism-is-caused-by-recessive-variants-in-rxfp2\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/06\\\/Untitled-300x215.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/06\\\/10\\\/familial-bilateral-cryptorchidism-is-caused-by-recessive-variants-in-rxfp2\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/06\\\/10\\\/familial-bilateral-cryptorchidism-is-caused-by-recessive-variants-in-rxfp2\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/06\\\/10\\\/familial-bilateral-cryptorchidism-is-caused-by-recessive-variants-in-rxfp2\\\/\",\"name\":\"Familial bilateral cryptorchidism is caused by recessive variants in RXFP2 (Contributed by Dr. Katie Ayers) - 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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":"Familial bilateral cryptorchidism is caused by recessive variants in RXFP2 (Contributed by Dr. Katie Ayers) - 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\/06\/10\/familial-bilateral-cryptorchidism-is-caused-by-recessive-variants-in-rxfp2\/","og_locale":"en_US","og_type":"article","og_title":"Familial bilateral cryptorchidism is caused by recessive variants in RXFP2 (Contributed by Dr. Katie Ayers) - JMG Contact blog","og_description":"Undescended testes or cryptorchidism is when one or both testes do not move down into the scrotum once developed. 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