Publication:

Laparoscopic bilateral gonadectomy in a case of turner syndrome with 45XO/46XY genotype

Turner syndrome is one of the common chromosomal aberrations which manifests in a female as multiple phenotypic disorders usually presenting as a case of primary amenorrhea. Many of these patients display mosaicism on karyotyping and a presence of Y chromosomal material indicates high risk of gonadoblastoma and gonadectomy is indicated which is best achieved by laparoscopy. This is a case of 21-year-old female phenotype referred as a case of primary amenorrhea diagnosed as Turner syndrome with 46XY mosaicism. Laparoscopic bilateral salpingoophorectomy was done. In patients of primary amenorrhea karyotyping should be evaluated and if Y chromosome detected these patients should be subjected to gonadectomy after proper risk counselling about malignancy.