{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:38:24Z","timestamp":1791041904105,"version":"4.1.0"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:sec>\n<jats:title>Context<\/jats:title>\n<jats:p>Abnormalities in the hypothalamo\u2013pituitary\u2013gonadal axis have long been reported in Noonan syndrome (NS) males with only few data available in prepubertal children.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Objective<\/jats:title>\n<jats:p>The aim of this study was to describe the gonadal function of NS males from childhood to adulthood.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Design<\/jats:title>\n<jats:p>It is a retrospective chart review.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Patients and methods<\/jats:title>\n<jats:p>A total of 37 males with a genetically confirmed diagnosis of NS were included. Clinical and genetic features, as well as serum hormone levels (LH, FSH, testosterone, anti-M\u00fcllerian hormone (AMH), and inhibin B) were analysed.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>Of the 37 patients, 16 (43%) children had entered puberty at a median age of 13.5 years (range: 11.4\u201315.0 years); age at pubertal onset was negatively correlated with BMI SDS (<jats:italic>r<\/jats:italic>\u2009=\u2009\u22120.541; <jats:italic>P<\/jats:italic>\u2009=\u20090.022). In pubertal boys, testosterone levels were normal suggesting a normal Leydig cell function. In contrast, NS patients had significant lower levels of AMH (mean SDS: \u22120.6\u2009\u00b1\u20091.1; <jats:italic>P<\/jats:italic>\u2009=\u20090.003) and inhibin B (mean SDS: \u22121.1\u2009\u00b1\u20091.2; <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001) compared with the general population, suggesting a Sertoli cell dysfunction. Lower AMH and inhibin B levels were found in <jats:italic>NS-PTPN11<\/jats:italic> patients, whereas these markers did not differ from healthy children in <jats:italic>SOS1<\/jats:italic> patients. No difference was found between cryptorchid and non-cryptorchid patients for AMH and inhibin B levels (<jats:italic>P<\/jats:italic>\u2009=\u20090.43 and 0.62 respectively). Four <jats:italic>NS-PTPN11<\/jats:italic> patients had a severe primary hypogonadism with azoospermia\/cryptozoospermia.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>NS males display Sertoli cell-specific primary testicular insufficiency, whereas Leydig cell function seems to be unaffected.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-18-0582","type":"journal-article","created":{"date-parts":[[2018,10,2]],"date-time":"2018-10-02T11:01:08Z","timestamp":1538478068000},"page":"409-418","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":29,"title":["Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency"],"prefix":"10.1093","volume":"179","author":[{"given":"Sophie","family":"Moniez","sequence":"first","affiliation":[{"name":"1Endocrine, Bone Diseases, and Genetics Unit, Children\u2019s Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Pienkowski","sequence":"additional","affiliation":[{"name":"1Endocrine, Bone Diseases, and Genetics Unit, Children\u2019s Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Lepage","sequence":"additional","affiliation":[{"name":"2Department of Epidemiology, CECOS Midi-Pyr\u00e9n\u00e9es, EA 3694 Human Fertility Research Group, Toulouse University Hospital, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safouane","family":"Hamdi","sequence":"additional","affiliation":[{"name":"3Laboratory of Biochemistry and Hormonology, CECOS Midi-Pyr\u00e9n\u00e9es, EA 3694 Human Fertility Research Group, Toulouse University Hospital, Toulouse, France"},{"name":"4Fertility Centre, CECOS Midi-Pyr\u00e9n\u00e9es, EA 3694 Human Fertility Research Group, Toulouse University Hospital, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myriam","family":"Daudin","sequence":"additional","affiliation":[{"name":"4Fertility Centre, CECOS Midi-Pyr\u00e9n\u00e9es, EA 3694 Human Fertility Research Group, Toulouse University Hospital, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Oliver","sequence":"additional","affiliation":[{"name":"1Endocrine, Bone Diseases, and Genetics Unit, Children\u2019s Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9atrice","family":"Jouret","sequence":"additional","affiliation":[{"name":"1Endocrine, Bone Diseases, and Genetics Unit, Children\u2019s Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Cartault","sequence":"additional","affiliation":[{"name":"1Endocrine, Bone Diseases, and Genetics Unit, Children\u2019s 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