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. RESULTS: CONCLUSIONS: 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.
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Authors | Carmen Capito, Marc-David Leclair, Alexis Arnaud, Albert David, Sabine Baron, Nadège Corradini, Yves Héloury |
Journal | Journal of pediatric urology
(J Pediatr Urol)
Vol. 7
Issue 1
Pg. 72-5
(Feb 2011)
ISSN: 1873-4898 [Electronic] England |
PMID | 20153258
(Publication Type: Journal Article)
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Copyright | Copyright © 2010 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved. |
Topics |
- Abdominal Pain
(etiology)
- Adolescent
- Amenorrhea
(etiology)
- Child
- Child, Preschool
- Dysgerminoma
(etiology, prevention & control)
- Female
- Follow-Up Studies
- Gonadal Dysgenesis, 46,XY
(complications, diagnosis, genetics)
- Humans
- Infant
- Infant, Newborn
- Karyotyping
- Ovarian Neoplasms
(etiology, prevention & control)
- Ovariectomy
- Retrospective Studies
- Young Adult
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