Mosaic Turner Syndrome With 45,X/46,XY Mosaicism and Apparent Absent Uterus

Turner syndrome (TS) is a relatively common chromosomal abnormality in females. Short stature, gonadal dysgenesis, and somatic dysmorphic features are the characteristic features of the syndrome. The chromosomal abnormalities of TS are highly variable; 45,X/46,XY mosaicism accounts for 10-12% of cases of Turner syndrome. Despite the presence of hypogonadism, affected females typically have a uterus. Here, we report the case of a 22-year-old female who presented at 15 years of age with primary amenorrhea. She was diagnosed with Turner syndrome mosaicism with a karyotype of 45,X/46,XY. Her pelvic imaging showed an absent uterus and ovaries. Due to the presence of a Y chromosome, she underwent prophylactic gonadectomy. Histopathology of her removed gonads confirmed the diagnosis of mixed gonadal disorder. She was started on estrogen replacement. Four years after treatment, she developed her menses. Her repeated pelvic magnetic resonance imaging showed the presence of a small uterus.