Department of pediatric surgery, Hopital Mère-Enfant, Nantes, France.
J Pediatr Urol. 2011 Feb;7(1):72-5. doi: 10.1016/j.jpurol.2010.01.010. Epub 2010 Feb 11.
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.
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).
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.
11 名 46,XY PGD 患者分为两组。6 名有症状的女孩（第 1 组）因闭经（n=3）、性腺肿瘤（n=2）或 Campomelic 发育不良（n=1）就诊。5 名无症状的筛查患者（第 2 组）在对两名性腺肿瘤先证者进行家族调查后被诊断为 46,XY PGD。所有患者均行双侧性腺切除术。
第 1 组患者中，病理检查显示 2 例伴性腺母细胞瘤的生殖细胞瘤（n=2）、双侧性腺母细胞瘤（n=2）和条索状性腺（n=2）。无症状患者（第 2 组）的预防性性腺切除术也显示出无症状的生殖细胞瘤伴性腺母细胞瘤（n=1）、双侧性腺母细胞瘤（n=2）和条索状性腺（n=2）。
青春期延迟的女孩出现性腺肿瘤可能与性腺发育不良有关。如果发现 46,XY PGD，应进行核型分析和家族研究，尤其是原发性闭经或诊断为生殖细胞瘤时。考虑到性腺母细胞瘤的高发率和生殖细胞瘤的早期发生，建议早期行双侧性腺切除术。
