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

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Castration / methods*
  • Chromosomes, Human, Y / genetics
  • Female
  • Gonadoblastoma* / pathology
  • Gonadoblastoma* / surgery
  • Hormone Replacement Therapy / methods
  • Humans
  • Hypogonadism* / diagnosis
  • Hypogonadism* / therapy
  • Mosaicism
  • Neoplasm Staging / methods
  • Prophylactic Surgical Procedures / methods
  • Risk Adjustment / methods
  • Seminoma* / pathology
  • Seminoma* / surgery
  • Turner Syndrome* / diagnosis
  • Turner Syndrome* / genetics
  • Turner Syndrome* / physiopathology
  • Turner Syndrome* / therapy
  • Watchful Waiting