46,XY pure gonadal dysgenesis: clinical presentations and management of the tumor risk.
METHODS
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
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).


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.
Department of pediatric surgery, Hopital Mère-Enfant, Nantes, France.
Carmen
C
Capito
Marc-David
MD
Leclair
Alexis
A
Arnaud
Albert
A
David
Sabine
S
Baron
Nadège
N
Corradini
Yves
Y
Héloury
D015746:Abdominal Pain / Q000209:etiology; D000293:Adolescent; D000568:Amenorrhea / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D004407:Dysgerminoma / Q000209:etiology* / Q000517:prevention & control*; D005260:Female; D005500:Follow-Up Studies; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D010051:Ovarian Neoplasms / Q000209:etiology* / Q000517:prevention & control*; D010052:Ovariectomy; D012189:Retrospective Studies; D055815:Young Adult