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特纳综合征 45,XO/46,XY 嵌合体患者中出现精原细胞瘤:病例报告及文献复习。

Seminoma In A Young Phenotypic Female With Turner Syndrome 45,XO/46,XY Mosaicism: A Case Report With Review Of The Literature.

机构信息

University of Utah, Division of Pediatric Urology, Salt Lake City, UT.

University of Utah, Division of Pediatric Urology, Salt Lake City, UT.

出版信息

Urology. 2020 May;139:168-170. doi: 10.1016/j.urology.2020.01.031. Epub 2020 Feb 10.

Abstract

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.

摘要

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。

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