{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:35:24Z","timestamp":1792035324205,"version":"4.4.0"},"reference-count":45,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,2,4]],"date-time":"2016-02-04T00:00:00Z","timestamp":1454544000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Pubertal gynecomastia is a common condition observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1\u20132\u00a0years. In this descriptive cross\u2010sectional study, we investigated 25 adolescent males with prominent (&gt;B3) and\/or persistent (&gt;2\u00a0years) pubertal gynecomastia (P\/<jats:styled-content style=\"fixed-case\">PPG<\/jats:styled-content>) to determine whether a hormonal\/genetic defect might underline this condition. Endocrine investigation revealed the absence of hormonal disturbance for 18 boys (72%). Three patients presented Klinefelter syndrome and three a partial androgen insensitivity syndrome (<jats:styled-content style=\"fixed-case\">PAIS<\/jats:styled-content>) as a result of p.Ala646Asp and p.Ala45Gly mutations of the androgen receptor gene. The last patient showed a 17\u03b1\u2010hydroxylase\/17,20\u2010lyase deficiency as a result of a compound heterozygous mutation of the <jats:styled-content style=\"fixed-case\">CYP<\/jats:styled-content>17A1 gene leading to p.Pro35Thr(P35T) and p.Arg239Stop(R239X) in the P450c17 protein. Enzymatic activity was analyzed: the mutant protein bearing the premature stop codon R239X showed a complete loss of 17\u03b1\u2010hydroxylase and 17,20\u2010lyase activity. The mutant P35T seemed to retain 15\u201320% of 17\u03b1\u2010hydroxylase and about 8\u201310% of 17,20\u2010lyase activity. This work demonstrates that P\/<jats:styled-content style=\"fixed-case\">PPG<\/jats:styled-content> had an endocrine\/genetic cause in 28% of our cases. <jats:styled-content style=\"fixed-case\">PAIS<\/jats:styled-content> may be expressed only by isolated gynecomastia as well as by 17\u03b1\u2010hydroxylase\/17,20\u2010lyase deficiency. Isolated P\/<jats:styled-content style=\"fixed-case\">PPG<\/jats:styled-content> is not always a \u2018physiological\u2019 condition and should thus be investigated through adequate endocrine and genetic investigations, even though larger studies are needed to better determine the real prevalence of genetic defects in such patients.<\/jats:p>","DOI":"10.1111\/andr.12145","type":"journal-article","created":{"date-parts":[[2016,2,5]],"date-time":"2016-02-05T00:28:08Z","timestamp":1454632088000},"page":"263-269","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent\/persistent pubertal gynecomastia"],"prefix":"10.1111","volume":"4","author":[{"given":"F.","family":"Paris","sequence":"first","affiliation":[{"name":"Unit\u00e9 d'Endocrinologie\u2010Gyn\u00e9cologie P\u00e9diatriques D\u00e9partement de P\u00e9diatrie H\u00f4pital Arnaud\u2010de\u2010Villeneuve CHU Montpellier et Universit\u00e9 Montpellier 1 Montpellier France"},{"name":"D\u00e9partement d'Hormonologie (D\u00e9veloppement et Reproduction) H\u00f4pital Lapeyronie CHU Montpellier et Universit\u00e9 Montpellier 1 Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Gaspari","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d'Endocrinologie\u2010Gyn\u00e9cologie P\u00e9diatriques D\u00e9partement de P\u00e9diatrie H\u00f4pital Arnaud\u2010de\u2010Villeneuve CHU Montpellier et Universit\u00e9 Montpellier 1 Montpellier France"},{"name":"D\u00e9partement de P\u00e9diatrie H\u00f4pital Caremeau CHU N\u00eemes N\u00eemes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Mbou","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie CHU de Fort de France Martinique"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Philibert","sequence":"additional","affiliation":[{"name":"D\u00e9partement d'Hormonologie (D\u00e9veloppement et Reproduction) H\u00f4pital Lapeyronie CHU Montpellier et Universit\u00e9 Montpellier 1 Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Audran","sequence":"additional","affiliation":[{"name":"D\u00e9partement d'Hormonologie (D\u00e9veloppement et Reproduction) H\u00f4pital Lapeyronie CHU Montpellier et Universit\u00e9 Montpellier 1 Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Morel","sequence":"additional","affiliation":[{"name":"Centre de Biologie et Pathologie Est Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Biason\u2010Lauber","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Fribourg Fribourg Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Sultan","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d'Endocrinologie\u2010Gyn\u00e9cologie P\u00e9diatriques D\u00e9partement de P\u00e9diatrie H\u00f4pital Arnaud\u2010de\u2010Villeneuve CHU Montpellier et Universit\u00e9 Montpellier 1 Montpellier France"},{"name":"D\u00e9partement d'Hormonologie (D\u00e9veloppement et Reproduction) H\u00f4pital Lapeyronie CHU Montpellier et Universit\u00e9 Montpellier 1 Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,4]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"489","article-title":"Gynecomastia: review","volume":"5","author":"Abaci A","year":"2007","journal-title":"Pediatr Endocrinol Rev"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.2164\/jandrol.110.011536"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.74.3.667"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2012-0403"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.11.3807"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.3.1226"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82843-4"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03350177"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcp070677"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(93)90173-L"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.75.882.229"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.320.7244.1240"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-031021"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1517\/14740338.2012.712109"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-0724"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2006.02635.x"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-0145"},{"key":"e_1_2_7_19_1","first-page":"344","article-title":"Drug\u2010induced gynecomastia in children and adolescents","volume":"56","author":"Goldman RD","year":"2010","journal-title":"Can Fam Physician"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22046"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2011-300584"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<218::AID-AJMG38>3.0.CO;2-P"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80497-4"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-2413"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M405024200"},{"key":"e_1_2_7_26_1","first-page":"2543","article-title":"Prepubertal gynecomastia linked to lavender and tea tree oils","volume":"356","author":"Kalyan S","year":"2007","journal-title":"N Engl J Med"},{"key":"e_1_2_7_27_1","first-page":"263","article-title":"Incomplete virilization and sub\u2010clinical mineralocorticoid excess in a boy with partial 17,20\u2010desmolase\/17 alpha\u2010hydroxylase deficiency","volume":"122","author":"Lange WE","year":"1990","journal-title":"Acta Endocrinol"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.3803\/EnM.2015.30.2.226"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e328305e415"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030988"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-031770"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-58-3-492"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01208-0"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2007.03.013"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106412"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/324835"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1159\/000368862"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2009.03.057"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.21.16.5512-5519.2001"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1159\/000284362"},{"key":"e_1_2_7_41_1","first-page":"225","article-title":"Androgen insensitivity syndrome","volume":"5","author":"Sultan C","year":"2013","journal-title":"Genet Steroid Disord"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/dji240"},{"key":"e_1_2_7_43_1","volume-title":"Growth at Adolescence","author":"Tanner J","year":"1962"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2001-011880"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0625-6"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1159\/000057958"}],"container-title":["Andrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fandr.12145","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fandr.12145","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/andr.12145","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T08:06:25Z","timestamp":1695456385000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/andr.12145"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,4]]},"references-count":45,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.1111\/andr.12145"],"URL":"https:\/\/doi.org\/10.1111\/andr.12145","archive":["Portico"],"relation":{},"ISSN":["2047-2919","2047-2927"],"issn-type":[{"value":"2047-2919","type":"print"},{"value":"2047-2927","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,4]]},"assertion":[{"value":"2015-04-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-11-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-02-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}