{"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":1788995912889,"version":"build-2803163510"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,3,22]],"date-time":"2023-03-22T00:00:00Z","timestamp":1679443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Individuals with 45,X\/46,XY\u00a0or 46,XY\u00a0gonadal dysgenesis are at increased risk of germ cell malignancies. Therefore, prophylactic bilateral gonadectomy is advised in girls and considered in boys with atypical genitalia for undescended, macroscopically abnormal gonads. However, severely dysgenetic gonads may not contain germ cells rendering gonadectomy unnecessary. Therefore, we investigate if undetectable preoperative serum anti\u2010M\u00fcllerian hormone\u00a0(AMH) and inhibin B can predict the absence of germ cells, (pre)malignant or otherwise.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design, Patients and Measurements<\/jats:title><jats:p>Individuals who had undergone bilateral gonadal biopsy and\/or gonadectomy because of suspected gonadal dysgenesis in 1999\u20132019 were included in this retrospective study if preoperative AMH and\/or inhibin B were available. Histological material was reviewed by an experienced pathologist. Haematoxylin and eosin and immunohistochemical stainings for SOX9, OCT4, TSPY and SCF (KITL) were used.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirteen males and 16 females were included, 20 with 46,XY\u00a0and 9 with 45,X\/46,XY DSD. Three\u00a0females had dysgerminoma alongside gonadoblastoma; two\u00a0gonadoblastoma, one germ cell neoplasia in situ (GCNIS) and three males had pre\u2010GCNIS and\/or pre\u2010gonadoblastoma. Gonadoblastoma and\/or dysgerminoma were present in 3\/11 individuals with undetectable AMH and inhibin B, one of whom also had non\u2010(pre)malignant germ cells. Of the other 18, in whom AMH and\/or inhibin B were detectable, only one had no germ cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Undetectable serum AMH and inhibin B cannot reliably predict the absence of germ cells and germ cell tumours in individuals with 45,X\/46,XY\u00a0or 46,XY\u00a0gonadal dysgenesis. This information should help in counselling about prophylactic gonadectomy, taking into account both the germ cell cancer risk and potential for gonadal function.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.14909","type":"journal-article","created":{"date-parts":[[2023,3,11]],"date-time":"2023-03-11T06:14:15Z","timestamp":1678515255000},"page":"58-63","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Undetectable anti\u2010Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X\/46,XY or 46,XY gonadal dysgenesis"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8996-0993","authenticated-orcid":false,"given":"Sabine E.","family":"Hannema","sequence":"first","affiliation":[{"name":"Erasmus MC, Sophia Children's Hospital,\u00a0DSD\u2010Expert Center University Medical Center Rotterdam Rotterdam the Netherlands"},{"name":"Department of Pediatric Endocrinology, Erasmus MC University Medical Center  Rotterdam the Netherlands"},{"name":"Department of Pediatrics Leiden University Medical Center Leiden the Netherlands"},{"name":"Department of Paediatric Endocrinology Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja P.","family":"Wolffenbuttel","sequence":"additional","affiliation":[{"name":"Erasmus MC, Sophia Children's Hospital,\u00a0DSD\u2010Expert Center University Medical Center Rotterdam Rotterdam the Netherlands"},{"name":"Department of Urology and Pediatric Urology, Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yolande","family":"van Bever","sequence":"additional","affiliation":[{"name":"Erasmus MC, Sophia Children's Hospital,\u00a0DSD\u2010Expert Center University Medical Center Rotterdam Rotterdam the Netherlands"},{"name":"Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hennie T.","family":"Br\u00fcggenwirth","sequence":"additional","affiliation":[{"name":"Erasmus MC, Sophia Children's Hospital,\u00a0DSD\u2010Expert Center University Medical Center Rotterdam Rotterdam the Netherlands"},{"name":"Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sjoerd A. A.","family":"van den Berg","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Erasmus MC University Medical Center  the Netherlands"},{"name":"Department of Internal Medicine, Erasmus MC University Medical Center  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Remko","family":"Hersmus","sequence":"additional","affiliation":[{"name":"Erasmus MC, Sophia Children's Hospital,\u00a0DSD\u2010Expert Center University Medical Center Rotterdam Rotterdam the Netherlands"},{"name":"Department of Pathology, Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u00a0Wolter","family":"Oosterhuis","sequence":"additional","affiliation":[{"name":"Erasmus MC, Sophia Children's Hospital,\u00a0DSD\u2010Expert Center University Medical Center Rotterdam Rotterdam the Netherlands"},{"name":"Department of Pathology, Erasmus MC University Medical Center Rotterdam the Netherlands"},{"name":"Princess M\u00e1xima Center for Pediatric Oncology  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leendert H. 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