{"id":2095,"date":"2025-08-14T13:36:55","date_gmt":"2025-08-14T13:36:55","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2095"},"modified":"2026-02-22T01:00:04","modified_gmt":"2026-02-22T01:00:04","slug":"new-patients-with-duplication-of-the-pituitary-gland-plus-syndrome-including-a-ptch2-variant-and-a-literature-review","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/08\/14\/new-patients-with-duplication-of-the-pituitary-gland-plus-syndrome-including-a-ptch2-variant-and-a-literature-review\/","title":{"rendered":"New patients with duplication of the pituitary gland\u2013plus syndrome, including a PTCH2 variant and a literature review (Contributed by Dr Duangrurdee Wattanasirichaigoon)"},"content":{"rendered":"<p>Duplication of the Pituitary Gland Plus Syndrome is an extremely rare condition, with fewer than 60 cases reported worldwide. It involves having two pituitary glands, abnormal neck bones, cleft palate, and a teratoma (benign tumor) inside the mouth at birth\u2014features that suggest a genetic cause rather than occurring by chance. We report the first two known cases in Thailand. Genetic testing found a variation in the PTCH2 gene, part of the Hedgehog signaling pathway, which is important in early development. While the exact role of this gene change is unclear, we believe the condition may result from a combination of genetic disruptions affecting this pathway during pregnancy. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2025\/08\/12\/jmg-2024-110417\">https:\/\/jmg.bmj.com\/content\/early\/2025\/08\/12\/jmg-2024-110417<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Duplication of the Pituitary Gland Plus Syndrome is an extremely rare condition, with fewer than 60 cases reported worldwide. It involves having two pituitary glands, abnormal neck bones, cleft palate, and a teratoma (benign tumor) inside the mouth at birth\u2014features that suggest a genetic cause rather than occurring by chance. We report the first two [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/08\/14\/new-patients-with-duplication-of-the-pituitary-gland-plus-syndrome-including-a-ptch2-variant-and-a-literature-review\/\">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-2095","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 patients with duplication of the pituitary gland\u2013plus syndrome, including a PTCH2 variant and a literature review (Contributed by Dr Duangrurdee Wattanasirichaigoon) - 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\/2025\/08\/14\/new-patients-with-duplication-of-the-pituitary-gland-plus-syndrome-including-a-ptch2-variant-and-a-literature-review\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"New patients with duplication of the pituitary gland\u2013plus syndrome, including a PTCH2 variant and a literature review (Contributed by Dr Duangrurdee Wattanasirichaigoon) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Duplication of the Pituitary Gland Plus Syndrome is an extremely rare condition, with fewer than 60 cases reported worldwide. It involves having two pituitary glands, abnormal neck bones, cleft palate, and a teratoma (benign tumor) inside the mouth at birth\u2014features that suggest a genetic cause rather than occurring by chance. We report the first two [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/08\/14\/new-patients-with-duplication-of-the-pituitary-gland-plus-syndrome-including-a-ptch2-variant-and-a-literature-review\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-08-14T13:36:55+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:00:04+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\\\/2025\\\/08\\\/14\\\/new-patients-with-duplication-of-the-pituitary-gland-plus-syndrome-including-a-ptch2-variant-and-a-literature-review\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/08\\\/14\\\/new-patients-with-duplication-of-the-pituitary-gland-plus-syndrome-including-a-ptch2-variant-and-a-literature-review\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"New patients with duplication of the pituitary gland\u2013plus syndrome, including a PTCH2 variant and a literature review (Contributed by Dr Duangrurdee Wattanasirichaigoon)\",\"datePublished\":\"2025-08-14T13:36:55+00:00\",\"dateModified\":\"2026-02-22T01:00:04+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/08\\\/14\\\/new-patients-with-duplication-of-the-pituitary-gland-plus-syndrome-including-a-ptch2-variant-and-a-literature-review\\\/\"},\"wordCount\":138,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/08\\\/14\\\/new-patients-with-duplication-of-the-pituitary-gland-plus-syndrome-including-a-ptch2-variant-and-a-literature-review\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/08\\\/14\\\/new-patients-with-duplication-of-the-pituitary-gland-plus-syndrome-including-a-ptch2-variant-and-a-literature-review\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/08\\\/14\\\/new-patients-with-duplication-of-the-pituitary-gland-plus-syndrome-including-a-ptch2-variant-and-a-literature-review\\\/\",\"name\":\"New patients with duplication of the pituitary gland\u2013plus syndrome, including a PTCH2 variant and a literature review (Contributed by Dr Duangrurdee Wattanasirichaigoon) - 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