{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T21:31:56Z","timestamp":1740173516957,"version":"3.37.3"},"reference-count":14,"publisher":"Endocrinology Research Centre","issue":"4","license":[{"start":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T00:00:00Z","timestamp":1693353600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.probl-endojournals.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":["www.probl-endojournals.ru"],"crossmark-restriction":true},"short-container-title":["Probl Endokrinol (Mosk)"],"abstract":"<jats:p>Peutz-Jeghers Syndrome (Peutz-Jeghers Syndrome, PJS) refers to syndromes of hereditary tumor predisposition and is caused by pathological variants of the STK11 gene, leading to a defect in the synthesis of serine\/threonine kinase 11 protein, which acts as a tumor suppressor.Clinical symptoms of the syndrome are combination of hamartomatous polyposis of the gastrointestinal tract and specific skin-mucosal hyperpigmentation. Also, this disease is characterized by a high risk of developing gastrointestinal and extra-intestinal tumors, including benign or malignant tumors of the reproductive system.One of the first signs of the disease in male patients may be prepubertal gynecomastia associated with large-cell calcifying Sertoli cells tumors expressing aromatase. In contrast to from pubertal gynecomastia, prepubertal is extremely rare, and it is often based on pathological causes. Early diagnosis of patients with pre-pubertal gynecomastia, including Peitz-Jaegers syndrome, defines the tactics of gynecomastia management and protocols for monitoring the development of other components of the disease in the future.This article describes two patients with pre-pubertal gynecomastia and Peitz-Jaegers syndrome with different molecular genetic defects: in one case associated with duplication of the STK11 gene site, in the other \u2014 with microdeletion of the short arm of chromosome 19 containing this gene.<\/jats:p>","DOI":"10.14341\/probl13239","type":"journal-article","created":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T10:05:54Z","timestamp":1694513154000},"page":"101-106","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":0,"title":["Prepubertal gynecomastia at the debut of hereditary tumors predisposition syndrome (clinical case reports)"],"prefix":"10.14341","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1320-6561","authenticated-orcid":true,"given":"M. A.","family":"Kareva","sequence":"first","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5650-1440","authenticated-orcid":true,"given":"L. S.","family":"Sozaeva","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4915-1267","authenticated-orcid":true,"given":"I. S.","family":"Chugunov","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5507-4627","authenticated-orcid":true,"given":"V. A.","family":"Peterkova","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4132-6969","authenticated-orcid":true,"given":"S. D.","family":"Mikhalina","sequence":"additional","affiliation":[{"name":"Endocrinology Research Center"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5458","published-online":{"date-parts":[[2023,8,30]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Mahoney CP. Adolescent gynecomastia. Differential diagnosis and management. Pediatr Clin North Am. 1990;37(6):1389-1404. doi: https:\/\/doi.org\/10.1016\/s0031-3955(16)37016-x","DOI":"10.1016\/S0031-3955(16)37016-X"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Mieritz MG, Rak\u00eat LL, Hagen CP, et al. A longitudinal study of growth, sex steroids, and IGF-1 in boys with physiological gynecomastia. J Clin Endocrinol Metab. 2015;100(10):3752-3759. doi: https:\/\/doi.org\/10.1210\/jc.2015-2836","DOI":"10.1210\/jc.2015-2836"},{"key":"ref3","doi-asserted-by":"crossref","unstructured":"Ma NS, Geffner ME. Gynecomastia in prepubertal and pubertal men. 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Gut. 2010;59(7):975-986. doi: https:\/\/doi.org\/10.1136\/gut.2009.198499","DOI":"10.1136\/gut.2009.198499"},{"key":"ref10","doi-asserted-by":"crossref","unstructured":"Boland CR, Idos GE, Durno C, et al. Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: Recommendations from the US multi-society task force on colorectal cancer. Gastroenterology. 2022;162(7):2063-2085. doi: https:\/\/doi.org\/10.1053\/j.gastro.2022.02.021","DOI":"10.1053\/j.gastro.2022.02.021"},{"key":"ref11","doi-asserted-by":"crossref","unstructured":"van Lier MGF, Wagner A, Mathus-Vliegen EMH, et al. High cancer risk in Peutz\u2013Jeghers syndrome: A systematic review and surveillance recommendations. Am J Gastroenterol. 2010;105(6):1258-1264. doi: https:\/\/doi.org\/10.1038\/ajg.2009.725","DOI":"10.1038\/ajg.2009.725"},{"key":"ref12","doi-asserted-by":"crossref","unstructured":"Lefevre H, Bouvattier C, Lahlou N, et al. Prepubertal gynecomastia in Peutz-Jeghers syndrome: incomplete penetrance in a familial case and management with an aromatase inhibitor. Eur J Endocrinol. 2006;154(2):221-227. doi: https:\/\/doi.org\/10.1530\/eje.1.02085","DOI":"10.1530\/eje.1.02085"},{"key":"ref13","doi-asserted-by":"crossref","unstructured":"Young RH, Dickersin GR, Scully RE. A distinctive ovarian sex cord-stromal tumor causing sexual precocity in the PeutzJeghers syndrome. Am J Surg Pathol. 1983;7(3):233-243. doi: https:\/\/doi.org\/10.1097\/00000478-198304000-00002","DOI":"10.1097\/00000478-198304000-00002"},{"key":"ref14","doi-asserted-by":"crossref","unstructured":"Laimon W, El-Hawary A, Aboelenin H, et al. Prepubertal gynecomastia is not always idiopathic: case series and review of the literature. 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