{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T23:18:32Z","timestamp":1788995912521,"version":"build-2803163510"},"reference-count":49,"publisher":"The Endocrine Society","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Context:<\/jats:title><jats:p>Gonadectomy is avoided whenever possible in boys with 45,X\/46,XY. However, no clinical markers are currently available to guide clinicians in predicting gonadal tumor risk or hormone production.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective:<\/jats:title><jats:p>The objective of the study was to test the hypothesis that gonadal histology and risk for development of a malignant germ cell tumor are reflected by the clinical presentation of a 45,X\/46,XY individual.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design:<\/jats:title><jats:p>The design of the study was the correlation of clinical data [external masculinization score (EMS), pubertal outcome] with pathology data (gonadal phenotype, tumor risk).<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting:<\/jats:title><jats:p>This was a multicenter study involving two multidisciplinary disorder of sex development teams.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients:<\/jats:title><jats:p>Patients included genetically proven 45,X\/46,XY (and variants) cases, of whom at least one gonadal biopsy or gonadectomy specimen was available, together with clinical details.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interventions:<\/jats:title><jats:p>Patients (n = 48) were divided into three groups, based on the EMS. Gonadal histology and tumor risk were assessed on paraffin-embedded samples (n = 87) by morphology and immunohistochemistry on the basis of established criteria.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main Outcome Measures:<\/jats:title><jats:p>Gonadal differentiation and tumor risk in the three clinical groups were measured. Clinical outcome in patients with at least one preserved gonad was also measured.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Tumor risk in the three groups was significantly related to the gonadal differentiation pattern (P &amp;lt; 0.001). In boys, hormone production was sufficient and was not predicted by the EMS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>The EMS reflects gonadal differentiation and tumor risk in patients with 45,X\/46,XY. In boys, testosterone production is often sufficient, but strict follow-up is warranted because of malignancy risk, which appears inversely related to EMS. In girls, tumor risk is limited but gonads are not functional, making gonadectomy the most reasonable option.<\/jats:p><\/jats:sec>","DOI":"10.1210\/jc.2011-0232","type":"journal-article","created":{"date-parts":[[2011,4,20]],"date-time":"2011-04-20T20:14:40Z","timestamp":1303330480000},"page":"E1171-E1180","source":"Crossref","is-referenced-by-count":137,"title":["Gonadal Pathology and Tumor Risk in Relation to Clinical Characteristics in Patients with 45,X\/46,XY Mosaicism"],"prefix":"10.1210","volume":"96","author":[{"given":"M.","family":"Cools","sequence":"first","affiliation":[{"name":"Department of Pediatrics (M.C.), University Hospital Ghent and Ghent University, 9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Pleskacova","sequence":"additional","affiliation":[{"name":"Department of Pathology (J.P., H.S., J.W.O., L.H.J.L.), Erasmus Medical Center, Sophia Children's Hospital, 3000-DR Rotterdam, The Netherlands"},{"name":"Department of Pediatrics (J.P., J.L.), Charles University, Second Faculty of Medicine, University Hospital Motol, 100 34 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Stoop","sequence":"additional","affiliation":[{"name":"Department of Pathology (J.P., H.S., J.W.O., L.H.J.L.), Erasmus Medical Center, Sophia Children's Hospital, 3000-DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Hoebeke","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, and Department of Urology (P.H., E.V.L.), University Hospital Ghent and Ghent University, 9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Van Laecke","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, and Department of Urology (P.H., E.V.L.), University Hospital Ghent and Ghent University, 9000 Ghent, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. L. S.","family":"Drop","sequence":"additional","affiliation":[{"name":"Josephine Nefkens Institute, Daniel Den Hoed Cancer Center, and Departments of Pediatrics (S.L.S.D.), Erasmus Medical Center, Sophia Children's Hospital, 3000-DR Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Lebl","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (M.C.), University Hospital Ghent and Ghent University, 9000 Ghent, Belgium"},{"name":"Department of Pediatrics (J.P., J.L.), Charles University, Second Faculty of Medicine, University Hospital Motol, 100 34 Prague, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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