{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T10:15:46Z","timestamp":1790936146340,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,10,11]],"date-time":"2012-10-11T00:00:00Z","timestamp":1349913600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Previous studies examining reproductive parameters in men with galactosemia have inconsistently demonstrated abnormalities. We hypothesized that men with galactosemia may demonstrate evidence of reproductive dysfunction. Pubertal history, physical examination, hormone levels and semen analyses were examined in 26 males with galactosemia and compared to those in 46 controls. The prevalence of cryptorchidism was higher in men with galactosemia than in the general population [11.6 % vs. 1.0 % (95%CI: 0.75\u20131.26; p\u2009&lt;\u20090.001)]. Testosterone (461\u2009\u00b1\u2009125 vs. 532\u2009\u00b1\u2009133 ng%; p\u2009=\u20090.04), inhibin B (144\u2009\u00b1\u200966 vs. 183\u2009\u00b1\u200952 pg\/mL; p\u2009=\u20090.002) and sperm concentration (46\u2009\u00b1\u200936 vs. 112\u2009\u00b1\u200975\u2009\u00d7\u200910<jats:sup>6<\/jats:sup> spermatozoa\/mL; p\u2009=\u20090.01) were lower and SHBG was higher (40.7\u2009\u00b1\u200921.5 vs 26.7\u2009\u00b1\u200914.6; p\u2009=\u20090.002) in men with galactosemia compared to controls. Semen volume was below normal in seven out of 12 men with galactosemia. Men with galactosemia have a higher than expected prevalence of cryptorchidism and low semen volumes. The subtle decrease in testosterone and inhibin B levels and sperm count may indicate mild defects in Sertoli and Leydig cell function, but does not point towards severe infertility causing reproductive impairment. Follow\u2010up studies are needed to further determine the clinical consequences of these abnormalities.<\/jats:p>","DOI":"10.1007\/s10545-012-9539-1","type":"journal-article","created":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T18:48:48Z","timestamp":1349894928000},"page":"779-786","source":"Crossref","is-referenced-by-count":23,"title":["The male reproductive system in classic galactosemia: cryptorchidism and low semen volume"],"prefix":"10.1002","volume":"36","author":[{"given":"Cynthia S.","family":"Gubbels","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Center Postbus 5800 Maastricht 6202 AZ The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrine K.","family":"Welt","sequence":"additional","affiliation":[{"name":"Reproductive Endocrine Unit, Massachusetts General Hospital Harvard Medical School Boston USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C. M.","family":"Dumoulin","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology and Center for Reproductive Medicine Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon G. F.","family":"Robben","sequence":"additional","affiliation":[{"name":"Department of Radiology Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine M.","family":"Gordon","sequence":"additional","affiliation":[{"name":"Divisions of Endocrinology and Adolescent Medicine Hasbro Children's Hospital and Brown University Providence RI USA"},{"name":"Children's Hospital Boston and Harvard Medical School Boston USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard A. J.","family":"Dunselman","sequence":"additional","affiliation":[{"name":"GROW: School for Oncology and Developmental Biology and Department of Obstetrics and Gynaecology Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Estela","family":"Rubio\u2010Gozalbo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Laboratory Genetic Metabolic Disease Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard T.","family":"Berry","sequence":"additional","affiliation":[{"name":"The Manton Center for Orphan Disease Research, Division of Genetics, Children's Hospital Boston Harvard Medical School Boston 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