Association between Karyotype, Puberty Stage, and Volume of Reproductive Organs in Turner Syndrome: The First Transrectal Sonography Study in Indonesia

Background: Turner syndrome is characterized by the absence of part or the entire X chromosome in a woman, resulting in short stature, gonadal dysgenesis, and congenital anomaly. Based on karyotype, Turner syndrome is categorized as classical (45XO) and mosaic. The aim of this study is to evaluate the relationship of the karyotype with the puberty stage, volume of the uterus, and volume of the ovary in adolescents with Turner syndrome who underwent estrogen therapy. Methods: A cross-sectional study was done at the Cipto Mangunkusumo National Hospital since July to December 2018. Pubertal staging was based on Tanner stage. Uterine and ovary volume were measured using transrectal sonography. Results: Of 21 study subjects, 8 had classical karyotype and 13 had mosaic karyotype in 12–21-year-old subjects. There was an association between karyotype and Tanner M stage (mammae stage) (p = 0.035). Breasts development in Turner syndrome with mosaic karyotype showed better development compared with classic karyotype. No association was found between karyotype and the volume of the uterus and ovaries. Conclusions: Karyotype is associated with Tanner mammae stage but not with uterine and ovary volume in adolescents with Turner syndrome who underwent estrogen therapy.