Endocrine Abstracts

Introduction: Turner syndrome is a chromosomal disorder that affects an estimated 1/2500 female live births. An estimated subset of 6-12% of all Turner Syndrome patients will be a mosaic with Y-chromosomal elements. It is recognized that a Turner female possessing Y chromosome material has an increased risk of developing gonadoblastoma, a precursor to dysgerminoma. Consequently guidelines recommend prophylactic gonadectomy in Turner females.

Obsevation: We present the case of a 17-year old female, followed for mosaic turner syndrome, who underwent prophylactic gonadectomy. Patient was followed for 4 years, the diagnosis was initially suspected in front of a failure to thrive, presence of Nevi on the face, and primary amenorrhea. Karyotype study was ordered and revealed a mosaic pattern of 46,X/45,X—70% of the cells containing Y chromosome material. The clinical examination finds the stigmata of the classic Turner Syndrome, wide neck with a low hairline, a high palate and a bradymetacarpus. An exploratory laparoscopy performed showed bilateral ovarian strips. Prophylactic gonadectomy was organized, by laparoscope. The post-operative follow-up was simple, with anapath, bilateral ganadic dysgenesis without signs of malignancy.

Conclusion: Early gonadectomy has been recommended in mosaic Turner females with Y- chromosomal material as a consequence of high risk of gonadoblastoma in infants as early as 5 months old.