{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T09:53:29Z","timestamp":1756461209052,"version":"3.37.3"},"reference-count":40,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,10,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:sec id=\"j_jpem-2017-0455_s_999\">\n<jats:title id=\"d4293352e2028\">Background<\/jats:title>\n<jats:p>Gynaecomastia, although rarely related to testicular tumours, in boys with Peutz-Jeghers syndrome (PJS) usually occurs due to large-cell calcifying Sertoli cell tumour (LCCSCT).<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2017-0455_s_998\">\n<jats:title id=\"d4293352e2036\">Case presentation<\/jats:title>\n<jats:p>A 4-year-old boy, with a genetic diagnosis of PJS, presented gynaecomastia since the age of 2, associated with increased height velocity (HV). He exhibited bilateral breast enlargement (Tanner-B4) and a testicular volume of 4 mL. Testicular ultrasound revealed multifocal microcalcifications in both testicles. A laboratory evaluation showed undetectable gonadotrophins, testosterone and oestrogen and inhibin A of 4.6 pg\/mL (0.9\u20131.7). The boy was subjected to therapy with anastrozole. In the last follow-up, 2 years after the start of therapy, he experienced a less tense Tanner-B2 and a decrease in HV; serum inhibin A had become negative.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2017-0455_s_997\">\n<jats:title id=\"d4293352e2044\">Conclusions<\/jats:title>\n<jats:p>This is one of the most precocious PJS-related gynaecomastia treated with aromatase inhibitors (AIs) reported in the literature. Oestrogen levels, although under the detection limit, may be sufficient to stimulate breast tissue\/growth plates. Inhibin A is a good marker of LCCSCT and an indicator of response to AIs.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2017-0455","type":"journal-article","created":{"date-parts":[[2018,7,27]],"date-time":"2018-07-27T22:16:35Z","timestamp":1532729795000},"page":"1149-1154","source":"Crossref","is-referenced-by-count":6,"title":["Prepubertal gynaecomastia in a boy with Peutz-Jeghers syndrome: managing the aromatase overexpression"],"prefix":"10.1515","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7119-5058","authenticated-orcid":false,"given":"Joana","family":"Sim\u00f5es-Pereira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filipa","family":"Santos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lurdes","family":"Lopes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catarina","family":"Limbert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref131","first-page":"135","article-title":"Aromatase inhibitors in pediatrics","volume":"8","year":"2011","journal-title":"Nat Rev Endocrinol"},{"first-page":"349","volume-title":"Pediatric endocrinology: mechanisms, manifestations and management","year":"2004","key":"ref141"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1097\/00000478-199711000-00002","article-title":"Large cell calcifying Sertoli cell tumor of the testis: contrasting features of six malignant and six benign tumors and a review of the literature","volume":"21","year":"1997","journal-title":"Am J Surg Path"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"E2673","DOI":"10.1210\/jc.2014-2530","article-title":"Use of aromatase inhibitors in large cell calcifying Sertoli cell tumors: effects on gynecomastia, growth velocity, and bone age","volume":"99","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1097\/MPG.0b013e318271643c","article-title":"Peutz-Jegher syndrome in childhood: need for updated recommendations?","volume":"56","year":"2013","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1159\/000324178","article-title":"Prepubertal gynecomastia in two monozygotic twins with Peutz-Jeghers syndrome: two years\u2019 treatment with anastrozole and genetic study","volume":"75","year":"2011","journal-title":"Horm Res Paediatr"},{"key":"ref01","first-page":"605","article-title":"Gynecomastia in puberty is usually asymptomatic and regresses spontaneously","volume":"26","year":"2013","journal-title":"J Pediatric Endocrinol Metab"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1007\/s00266-013-0188-z","article-title":"Management of prepubertal gynecomastia in two monozygotic twins with Peutz-Jeghers syndrome: from aromatase inhibitors to subcutaneous mastectomy","volume":"37","year":"2013","journal-title":"Aesthetic Plast Surg"},{"key":"ref201","first-page":"605","article-title":"Gynecomastia in puberty is usually asymptomatic and regresses spontaneously","volume":"26","year":"2013","journal-title":"J Pediatric Endocrinol Metab"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/1097-0142(19800701)46:1<223::AID-CNCR2820460137>3.0.CO;2-8","article-title":"Peutz-Jeghers syndrome with feminizing Sertoli cell tumor","volume":"46","year":"1980","journal-title":"Cancer"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1365-2265.2004.02059.x","article-title":"Prepubertal gynaecomastia: aetiology, course and outcome","volume":"61","year":"2004","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1159\/000324178","article-title":"Prepubertal gynecomastia in two monozygotic twins with Peutz-Jeghers syndrome: two years\u2019 treatment with anastrozole and genetic study","volume":"75","year":"2011","journal-title":"Horm Res Paediatr"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"E2673","DOI":"10.1210\/jc.2014-2530","article-title":"Use of aromatase inhibitors in large cell calcifying Sertoli cell tumors: effects on gynecomastia, growth velocity, and bone age","volume":"99","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"ref241","first-page":"2","article-title":"Isolated large cell calcifying Sertoli cell tumor in a young boy, not associated with Peutz-Jeghers syndrome or Carney complex","volume":"3","year":"2015","journal-title":"Ann Clin Lab Res"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1210\/me.2003-0039","article-title":"Sexually dimorphic roles of steroid hormone receptor signaling in gonadal tumorigenesis","volume":"17","year":"2003","journal-title":"Mol Endocrinol"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1530\/eje.1.02085","article-title":"Prepubertal gynecomastia in Peutz-Jeghers syndrome: incomplete penetrance in a familial case and management with an aromatase inhibitor","volume":"154","year":"2006","journal-title":"Eur J Endocrinol"},{"first-page":"349","volume-title":"Pediatric endocrinology: mechanisms, manifestations and management","year":"2004","key":"ref341"},{"key":"ref361","first-page":"252","article-title":"Sertoli cell tumor causing prepubertal gynecomastia in a boy with Peutz-Jeghers syndrome: the outcome of 1-year treatment with the aromatase inhibitor testolactone","volume":"63","year":"2005","journal-title":"Horm Res"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/j.1699-0463.1998.tb01325.x","article-title":"Inhibin gene expression in a large cell calcifying Sertoli cell tumour and serum inhibin and activin levels","volume":"106","year":"1998","journal-title":"APMIS"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1210\/jc.2013-2291","article-title":"Overexpression of aromatase associated with loss of heterozigosity of the STK11 gene accounts for prepubertal gynecomastia in boys with Peutz-Jeghers syndrome","volume":"98","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1038\/nrendo.2014.139","article-title":"Gynaecomastia \u2013 pathophysiology, diagnosis and treatment","volume":"10","year":"2014","journal-title":"Nat Rev Endocrinol"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1097\/MOP.0b013e328355a279","article-title":"Large-cell calcifying Sertoli cell tumors of the testes in pediatrics","volume":"24","year":"2012","journal-title":"Curr Opin Pediatr"},{"key":"ref91","first-page":"541","article-title":"Sertoli cell tumor of testis in childhood","volume":"128","year":"1974","journal-title":"Am J Dis Child"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1097\/MOP.0b013e328355a279","article-title":"Large-cell calcifying Sertoli cell tumors of the testes in pediatrics","volume":"24","year":"2012","journal-title":"Curr Opin Pediatr"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/j.1699-0463.1998.tb01325.x","article-title":"Inhibin gene expression in a large cell calcifying Sertoli cell tumour and serum inhibin and activin levels","volume":"106","year":"1998","journal-title":"APMIS"},{"key":"ref291","first-page":"541","article-title":"Sertoli cell tumor of testis in childhood","volume":"128","year":"1974","journal-title":"Am J Dis Child"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1097\/MPG.0b013e318271643c","article-title":"Peutz-Jegher syndrome in childhood: need for updated recommendations?","volume":"56","year":"2013","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1038\/nrendo.2014.139","article-title":"Gynaecomastia \u2013 pathophysiology, diagnosis and treatment","volume":"10","year":"2014","journal-title":"Nat Rev Endocrinol"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1097\/00000478-199711000-00002","article-title":"Large cell calcifying Sertoli cell tumor of the testis: contrasting features of six malignant and six benign tumors and a review of the literature","volume":"21","year":"1997","journal-title":"Am J Surg Path"},{"key":"ref161","first-page":"252","article-title":"Sertoli cell tumor causing prepubertal gynecomastia in a boy with Peutz-Jeghers syndrome: the outcome of 1-year treatment with the aromatase inhibitor testolactone","volume":"63","year":"2005","journal-title":"Horm Res"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1530\/eje.1.02085","article-title":"Prepubertal gynecomastia in Peutz-Jeghers syndrome: incomplete penetrance in a familial case and management with an aromatase inhibitor","volume":"154","year":"2006","journal-title":"Eur J Endocrinol"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1001\/jama.1961.03040440001001","article-title":"Gynecomastia in adolescent boys","volume":"178","year":"1961","journal-title":"J Am Med Assoc"},{"key":"ref331","first-page":"135","article-title":"Aromatase inhibitors in pediatrics","volume":"8","year":"2011","journal-title":"Nat Rev Endocrinol"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1007\/s00266-013-0188-z","article-title":"Management of prepubertal gynecomastia in two monozygotic twins with Peutz-Jeghers syndrome: from aromatase inhibitors to subcutaneous mastectomy","volume":"37","year":"2013","journal-title":"Aesthetic Plast Surg"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1365-2265.2004.02059.x","article-title":"Prepubertal gynaecomastia: aetiology, course and outcome","volume":"61","year":"2004","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/1097-0142(19800701)46:1<223::AID-CNCR2820460137>3.0.CO;2-8","article-title":"Peutz-Jeghers syndrome with feminizing Sertoli cell tumor","volume":"46","year":"1980","journal-title":"Cancer"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1210\/me.2003-0039","article-title":"Sexually dimorphic roles of steroid hormone receptor signaling in gonadal tumorigenesis","volume":"17","year":"2003","journal-title":"Mol Endocrinol"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1210\/jc.2013-2291","article-title":"Overexpression of aromatase associated with loss of heterozigosity of the STK11 gene accounts for prepubertal gynecomastia in boys with Peutz-Jeghers syndrome","volume":"98","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"ref41","first-page":"2","article-title":"Isolated large cell calcifying Sertoli cell tumor in a young boy, not associated with Peutz-Jeghers syndrome or Carney complex","volume":"3","year":"2015","journal-title":"Ann Clin Lab Res"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1001\/jama.1961.03040440001001","article-title":"Gynecomastia in adolescent boys","volume":"178","year":"1961","journal-title":"J Am Med Assoc"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2018.31.issue-10\/jpem-2017-0455\/jpem-2017-0455.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0455\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:43:28Z","timestamp":1619055808000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0455\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,25]]},"references-count":40,"journal-issue":{"issue":"10"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2017-0455","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"type":"electronic","value":"2191-0251"},{"type":"print","value":"0334-018X"}],"subject":[],"published":{"date-parts":[[2018,10,25]]}}}