Please use this identifier to cite or link to this item: https://repository.monashhealth.org/monashhealthjspui/handle/1/30186
Title: 46,XY pure gonadal dysgenesis: Clinical presentations and management of the tumor risk.
Authors: David A.;Heloury Y.;Arnaud A.;Baron S.;Corradini N.;Capito C.;Leclair M.-D.
Institution: (Capito, Leclair, Arnaud, Heloury) Department of Pediatric Surgery, Hopital Mre-Enfant, Nantes, France (Leclair, Corradini) Department of Pediatric Oncology, Hopital Mre-Enfant, Nantes, France (David) Department of Genetics, Hopital Mre-Enfant, Nantes, France (Baron) Department of Pediatric Endocrinology, Hopital Mre-Enfant, Nantes, France (Heloury) Department of Pediatric Surgery, Monash Medical Centre, Melbourne, VIC, Australia
Issue Date: 4-Oct-2012
Copyright year: 2011
Publisher: Elsevier Ltd (Langford Lane, Kidlington, Oxford OX5 1GB, United Kingdom)
Place of publication: United Kingdom
Publication information: Journal of Pediatric Urology. 7 (1) (pp 72-75), 2011. Date of Publication: February 2011.
Abstract: Patients: Eleven patients with 46,XY PGD were divided into two groups. Six symptomatic girls (group 1) were referred for amenorrhea (n = 3), gonadal tumor (n = 2) or campomelic dysplasia (n = 1). Five asymptomatic screened patients (group 2) were diagnosed as 46,XY PGD after familial investigation of the two probands with gonadal tumor. Bilateral gonadectomy was performed in all patients. Result(s): In group 1, pathologic examination revealed an association of dysgerminoma with gonadoblastoma (n = 2), bilateral gonadoblastoma (n = 2) and streak gonads (n = 2). Prophylactic gonadectomy in asymptomatic patients (group 2) also showed asymptomatic dysgerminoma with gonadoblastoma (n = 1), bilateral gonadoblastoma (n = 2) and streak gonads (n = 2). Conclusion(s): A gonadal tumor arising in a girl with pubertal delay may be related to dysgenesis of the gonad. Primary amenorrhea or diagnosis of dysgerminoma should warrant karyotype, and familial study if 46,XY PGD is found. Considering the high incidence of gonadoblastoma and the early occurrence of dysgerminoma, early bilateral gonadectomy is recommended. © 2010 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
DOI: http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1016/j.jpurol.2010.01.010
PubMed URL: 20153258 [http://www.ncbi.nlm.nih.gov/pubmed/?term=20153258]
ISSN: 1477-5131
URI: https://repository.monashhealth.org/monashhealthjspui/handle/1/30186
Type: Article
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