{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:13:18Z","timestamp":1790629998995,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,6,1]],"date-time":"2006-06-01T00:00:00Z","timestamp":1149120000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2006,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Objective\u2002<\/jats:bold>To investigate how genetic features of the X\u00a0chromosome influence growth, pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome (KS). Previous studies have suggested that genetic features of the X\u00a0chromosome may contribute to the wide phenotypic variation in KS.<\/jats:p><jats:p><jats:bold>Design\u2002<\/jats:bold>A prospective clinical study.<\/jats:p><jats:p><jats:bold>Patients\u2002<\/jats:bold>Fourteen nonmosaic 47,XXY boys, aged 10\u201313\u00b79\u00a0years.<\/jats:p><jats:p><jats:bold>Measurements\u2002<\/jats:bold>The relationship of genetic features of the X chromosome, including parental origin of X\u00a0chromosomes, the CAG repeat length of the androgen receptor (<jats:italic>AR<\/jats:italic>) gene, and X inactivation with progression of pubertal development, growth and testicular function in KS boys.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold>Paternal (47,X<jats:sup>m<\/jats:sup>X<jats:sup>p<\/jats:sup>Y,<jats:italic>n<\/jats:italic>\u00a0=\u00a03) as compared to maternal (47,X<jats:sup>m<\/jats:sup>X<jats:sup>m<\/jats:sup>Y,<jats:italic>n<\/jats:italic>\u00a0=\u00a011) origin of the supernumerary X\u00a0chromosome was associated with a later onset of puberty. In 47,X<jats:sup>m<\/jats:sup>X<jats:sup>p<\/jats:sup>Y patients, serum LH concentrations increased above 1\u00b70\u00a0IU\/l at 12\u00b75\u00a0\u00b1\u00a00\u00b76\u00a0years (mean\u00a0\u00b1\u00a0SD), Tanner stage P2 occurred at 12\u00b75\u00a0\u00b1\u00a00\u00b77\u00a0years, and pubertal acceleration of growth was noted at 13\u00b79\u00a0\u00b1\u00a01\u00b74\u00a0years and peak velocity at 14\u00b75\u00a0\u00b1\u00a00\u00b78\u00a0years. All of these occurred 1\u00b73\u20131\u00b79\u00a0years later than in 47,X<jats:sup>m<\/jats:sup>X<jats:sup>m<\/jats:sup>Y patients (<jats:italic>P\u00a0=<\/jats:italic>\u00a00\u00b701\u20130\u00b709). In 47,X<jats:sup>m<\/jats:sup>X<jats:sup>m<\/jats:sup>Y subjects, CAG repeat length (range 17\u201326) correlated with age at which serum LH level first exceeded 1\u00b70\u00a0IU\/l (<jats:italic>r<\/jats:italic><jats:sub>s<\/jats:sub>\u00a0=\u00a00\u00b763,<jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b706,<jats:italic>n<\/jats:italic>\u00a0=\u00a010) and testosterone 1\u00b70\u00a0nmol\/l (28\u00b78\u00a0ng\/dl) (<jats:italic>r<\/jats:italic><jats:sub>s<\/jats:sub>\u00a0=\u00a00\u00b778,<jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b702,<jats:italic>n<\/jats:italic>\u00a0=\u00a010).<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold>Paternal origin of the supernumerary X\u00a0chromosome is associated with later onset of puberty and longer CAG repeats of the<jats:italic>AR<\/jats:italic>with later pubertal reactivation of the pituitary\u2013testicular axis in KS boys. Identifying genetic factors that affect the phenotype may lead to a better understanding of the pathogenesis of KS.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2006.02554.x","type":"journal-article","created":{"date-parts":[[2006,6,1]],"date-time":"2006-06-01T22:34:42Z","timestamp":1149201282000},"page":"92-97","source":"Crossref","is-referenced-by-count":62,"title":["Genetic features of the X\u00a0chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome"],"prefix":"10.1111","volume":"65","author":[{"given":"Anne M.","family":"Wikstr\u00f6m","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jodie 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