University of Utah, Division of Pediatric Urology, Salt Lake City, UT.
University of Utah, Division of Pediatric Urology, Salt Lake City, UT.
Urology. 2020 May;139:168-170. doi: 10.1016/j.urology.2020.01.031. Epub 2020 Feb 10.
Turner syndrome is a chromosomal disorder that occurs in an estimated 1 in 2500 female live births. It is estimated that 6%-12% of all Turner syndrome patients will be a mosaic with Y-chromosomal elements putting them at risk for gonadoblastoma and subsequent dysgerminoma. While 30%-50% of this population demonstrate gonadoblastoma, we only found 23 reported cases of dysgerminoma in the literature, and no reported cases of seminoma. We present the first case of seminoma in a phenotypic Turner 15-year-old female after prophylactic gonadectomy.
特纳综合征是一种染色体疾病,估计每 2500 例女性活产中就有 1 例发生。据估计,所有特纳综合征患者中有 6%-12%为嵌合体,具有 Y 染色体成分,使她们面临罹患性腺母细胞瘤和随后的生殖细胞瘤的风险。尽管该人群中有 30%-50%表现出性腺母细胞瘤,但我们仅在文献中发现了 23 例生殖细胞瘤的报道病例,而没有报道的精原细胞瘤病例。我们报告了首例在接受预防性性腺切除术的表型特纳综合征 15 岁女性中发生的精原细胞瘤病例。