Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: An unusual case of mixed gonadal dysgenesis
Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: An unusual case of mixed gonadal dysgenesis
复制标题
具有特纳表型的 45X/46XY 嵌合体中的双侧精原细胞瘤：混合性腺发育不全的罕见病例
DOI：
10.1046/j.1341-8076.2003.00028.x
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发表时间：
2003
影响因子：
1.6
通讯作者：
R. Manchanda
中科院分区：
文献类型：
--
作者：
A. Kriplani;N. Agarwal;Parul;M. Sharma;R. Manchanda
在 45X/46XY 嵌合体病例中可以看到多种表型表现。我们提出了一个具有 45X/46XY 的病例，其具有女性表型和特纳的柱头。进行了预防性腹腔镜性腺切除术，发现患者患有混合性性腺发育不全和双侧性腺母细胞瘤。在两种性腺母细胞瘤中也检测到微侵袭性精原细胞瘤。核型中 Y 细胞系的存在促使人们进行早期预防性性腺切除术，这一手术对于这些人来说可以挽救生命。
A wide spectrum of phenotypic manifestations are seen in cases with 45X/46XY mosaicism. We present a case with 45X/46XY having female phenotype with Turner's stigmata. Prophylactic laparoscopic gonadectomy was performed and the patient was found to have mixed gonadal dysgenesis with bilateral gonadoblastomas. Microinvasive seminomas were also detected in both gonadoblastomas. The presence of Y cell line in karyotype prompted early and prophylactic gonadectomy, a procedure which is life‐saving for these individuals.