{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T05:40:12Z","timestamp":1756359612294,"version":"3.44.0"},"reference-count":36,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,1,3]]},"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>A boy in mid-childhood presented with right-sided gynaecomastia, which was excised. He represented and, on review by endocrinology, Tanner staging showed stage 2 left-sided glandular breast tissue and some features of virilisation. His testicular volumes remained prepubertal (3 mL). Testicular ultrasound demonstrated irregular echogenic foci bilaterally, and mucosal freckling was noted. A genetic panel confirmed a de novo <jats:italic>STK11<\/jats:italic> variant, pathogenic for Peutz-Jeghers syndrome (PJS). Aromatase inhibition was chosen in preference to left-sided mastectomy. His growth velocity and bone age stabilised, and left-sided breast budding reduced in size. He continues to have a good cosmetic outcome with preserved height potential 5 years later. In this case, to date, treatment with an aromatase inhibitor has negated the need for further surgery. Pseudopuberty in boys with PJS can lead to a diagnostic and treatment challenge. We present a recent case and review the evolving treatment standards and diagnostic strategies.<\/jats:p>","DOI":"10.1136\/bcr-2024-262022","type":"journal-article","created":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T23:45:15Z","timestamp":1737503115000},"page":"e262022","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Pseudoprecocious puberty and gynaecomastia as presenting features of Peutz-Jeghers syndrome"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7431-9135","authenticated-orcid":false,"given":"Karen J","family":"Kelleher","sequence":"first","affiliation":[{"name":"Diabetes and Endocrinology, Children's Health Ireland at Crumlin, Dublin 12, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sinead","family":"Glackin","sequence":"additional","affiliation":[{"name":"Paediatrics Department, Sligo University Hospital, Sligo, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-0163-2563","authenticated-orcid":false,"given":"Jennifer J","family":"Brady","sequence":"additional","affiliation":[{"name":"Biochemistry, Children's Health Ireland at Crumlin, Crumlin, Dublin, Ireland"},{"name":"School of Medicine, University College Dublin, Dublin 4, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5604-9450","authenticated-orcid":false,"given":"Susan M","family":"O'Connell","sequence":"additional","affiliation":[{"name":"Diabetes and Endocrinology, Children's Health Ireland at Crumlin, Dublin 12, Ireland"},{"name":"Paediatrics and Child Health, RSCI Royal College of Surgeons in Ireland, Dublin 2, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,1,21]]},"reference":[{"key":"2025082721591946000_18.1.e262022.1","unstructured":"Wu M , Krishnamurthy K . 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