{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T02:45:48Z","timestamp":1789785948383,"version":"4.0.1"},"reference-count":25,"publisher":"S. Karger AG","issue":"11-12","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) comprises a collection of clinical features characterized by constitutional variants in &lt;i&gt;PTEN&lt;\/i&gt;. Several guidelines recommend thyroid screening, beginning at the pediatric age at the time of PHTS diagnosis; however, the benefits of early surveillance has not been well defined. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; We conducted a retrospective investigation of patients followed up at the Children\u2019s Hospital of Philadelphia with a diagnosis of PHTS between January 2003 and June 2019. In total, 81 patients younger than 19 years were identified. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; The most common clinical feature at presentation was macrocephaly (85.1%), followed by impaired development (42.0%), skin\/oral lesions (30.9%), and autism spectrum disorder (27.2%). A total of 58 of 81 patients underwent thyroid surveillance, with 30 patients (51.7%) found to have a nodule(s). Ultimately, 16 patients underwent thyroidectomy, with 7.4% (6\/81) diagnosed with thyroid cancer. All thyroid cancer patients were older than 10 years at diagnosis, and all displayed low-invasive behavior. Of the patients younger than 10 years at the time of thyroid ultrasound (US) surveillance, 71.4% (15\/21) had a normal US. The remaining 6 patients had thyroid nodules, including 4 undergoing thyroid surgery with benign histology. &lt;b&gt;&lt;i&gt;Discussion\/Conclusion:&lt;\/i&gt;&lt;\/b&gt; Patients with macrocephaly, impaired cognitive development and thyroid nodules, and\/or early-onset gastrointestinal polyps should undergo constitutional testing for PHTS. There does not appear to be a clinical advantage to initiating thyroid US surveillance before 10 years of age. In PHTS patients with a normal physical examination, thyroid US surveillance can be delayed until 10 years of age. <\/jats:p>","DOI":"10.1159\/000515731","type":"journal-article","created":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T21:00:58Z","timestamp":1619125258000},"page":"634-642","source":"Crossref","is-referenced-by-count":16,"title":["The Clinical Spectrum of PTEN Hamartoma Tumor Syndrome: Exploring the Value of Thyroid Surveillance"],"prefix":"10.1159","volume":"93","author":[{"given":"Julia A.","family":"Baran","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven D.","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber","family":"Isaza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garrett M.","family":"Brodeur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne P.","family":"MacFarland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Zelley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise M.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aime T.","family":"Franco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3952-881X","authenticated-orcid":false,"given":"Andrew J.","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2021,4,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.4103\/0300-1652.110033"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3330"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.049981"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1530\/ERC-18-0162"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10257"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-11-2283"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2010.0093"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2009.0110"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1616"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2014.0460"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104484"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.96.3.zeg34a"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2014-305997"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1159\/000508872"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200008)16:2%3c109::AID-HUMU3%3e3.0.CO;2-0"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181ac9aea"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/j.surg.2012.08.055"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36266"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.6004\/jnccn.2017.0003"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymeth.2014.10.011"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-017-3067-9"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1159\/000506422"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016\/j.surg.2007.08.011"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0651-7"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2020.08.001"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/515731","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/515731","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:37:37Z","timestamp":1745426257000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000515731"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":25,"journal-issue":{"issue":"11-12","published-online":{"date-parts":[[2021,5,27]]},"published-print":{"date-parts":[[2021,6,3]]}},"URL":"https:\/\/doi.org\/10.1159\/000515731","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}