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The phenotype includes tall stature, hypotonia, neuropsychiatric comorbidities, and an increased risk of infertility in adulthood. Little is known about testicular function in childhood and adolescence in 47,XYY. This cross\u2010sectional study aimed to assess testicular function serum biomarkers, including total testosterone, inhibin B, and anti\u2010mullerian hormone (AMH), in 82 boys with XYY (11.3\u2009\u00b1\u20093.8\u2009years) compared with 66 male controls (11.6\u2009\u00b1\u20093.8\u2009years). The association of testicular hormones with physical features, neuropsychological phenotype, and magnetoencephalography (MEG) was assessed with multiple linear regression models. Results indicate males with XYY have significantly lower inhibin B (median 84\u2009pg\/ml vs. 109\u2009pg\/ml, <jats:italic>p<\/jats:italic> = .004) and higher AMH (median 41\u2009ng\/ml vs. 29\u2009ng\/ml, <jats:italic>p<\/jats:italic> = .011); however, testosterone, testicular volume, and stretched penile length were not different from controls. In the exploratory analysis of relationships between hormone concentrations and phenotypic assessments, higher inhibin B concentrations were positively correlated with lower BMI and better cognitive, academic, and behavioral outcomes in the XYY group. Testosterone concentrations were positively associated with better behavioral outcomes in boys with XYY. Higher testosterone and inhibin B concentrations were also associated with shorter auditory latencies measured using magnetoencephalography (MEG) in XYY. With a few exceptions, testicular hormones were not associated with phenotypic outcomes in controls. In conclusion, there is evidence of subtle impaired testicular function in boys with XYY and a newly described relationship between measures of testicular function and some aspects of the XYY phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.c.31790","type":"journal-article","created":{"date-parts":[[2020,6,16]],"date-time":"2020-06-16T19:59:42Z","timestamp":1592337582000},"page":"371-385","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Testicular function in boys with 47,<scp>XYY<\/scp> and relationship to phenotype"],"prefix":"10.1002","volume":"184","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0304-9550","authenticated-orcid":false,"given":"Shanlee M","family":"Davis","sequence":"first","affiliation":[{"name":"eXtraordinarY Kids Clinic and Research Program Children's Hospital Colorado  Aurora Colorado USA"},{"name":"Department of Pediatrics University of Colorado School of Medicine  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke","family":"Bloy","sequence":"additional","affiliation":[{"name":"Lurie Family Foundations MEG Imaging Center, Department of Radiology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy P.L.","family":"Roberts","sequence":"additional","affiliation":[{"name":"Lurie Family Foundations MEG Imaging Center, Department of Radiology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Kowal","sequence":"additional","affiliation":[{"name":"eXtraordinarY Kids Clinic DuPont Hospital for Children  Wilmington Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Alston","sequence":"additional","affiliation":[{"name":"eXtraordinarY Kids Clinic DuPont Hospital for Children  Wilmington Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aysha","family":"Tahsin","sequence":"additional","affiliation":[{"name":"eXtraordinarY Kids Clinic DuPont Hospital for Children  Wilmington Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyssa","family":"Truxon","sequence":"additional","affiliation":[{"name":"eXtraordinarY Kids Clinic DuPont Hospital for Children  Wilmington Delaware USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith L","family":"Ross","sequence":"additional","affiliation":[{"name":"eXtraordinarY Kids Clinic DuPont Hospital for Children  Wilmington Delaware USA"},{"name":"Department of Pediatrics Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1439-0272.2010.01129.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1426"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2014.00015"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb01356.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.05.037"},{"key":"e_1_2_6_7_1","unstructured":"Bloy L. 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