{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T05:29:00Z","timestamp":1784870940160,"version":"3.55.0"},"reference-count":50,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,12,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2018-0265_s_999\">\n                    <jats:title id=\"d3868931e24835\">Background<\/jats:title>\n                    <jats:p>Peutz-Jeghers syndrome (PJS) is characterized by gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. Patients with PJS can develop large calcifying Sertoli cell tumors (LCSTs).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2018-0265_s_998\">\n                    <jats:title id=\"d3868931e24843\">Case presentation<\/jats:title>\n                    <jats:p>\n                      A patient presented at 3 years of age with delayed development, hypermobility and later also with tall stature and advanced bone age. Extensive endocrine evaluation, mutation analysis of genes associated with connective tissue disorders and a single nucleotide polymorphism (SNP) array showed no abnormalities. At 8 years of age, gynecomastia developed as well as pigmentations on the lips, both of which are associated with PJS. Mutation analysis showed a heterozygous deletion of the whole\n                      <jats:italic>STK11<\/jats:italic>\n                      gene confirming PJS. Testicular ultrasound confirmed the presence of LCSTs. Interestingly, the previously performed SNP array did not report deletion of the\n                      <jats:italic>STK11<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2018-0265_s_997\">\n                    <jats:title id=\"d3868931e24857\">Conclusions<\/jats:title>\n                    <jats:p>\n                      We advise excluding LCSTs in children with tall stature and advanced bone age where more common causes have been eliminated. Although\n                      <jats:italic>STK11<\/jats:italic>\n                      deletions are documented in control databases, reporting the deletion of this gene even in the absence of a phenotype is advised for patient management.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2018-0265","type":"journal-article","created":{"date-parts":[[2018,11,17]],"date-time":"2018-11-17T06:42:56Z","timestamp":1542436976000},"page":"1381-1386","source":"Crossref","is-referenced-by-count":6,"title":["Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome"],"prefix":"10.1515","volume":"31","author":[{"given":"Judith S.","family":"Renes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"Knijnenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharmila","family":"Chitoe-Ramawadhdoebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan J.P.","family":"Gille","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiaan","family":"de Bruin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela Q.C.M.","family":"Barge-Schaapveld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref151","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1097\/PAS.0b013e3180309e33","article-title":"Intratubular large cell hyalinizing sertoli cell 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