Unusual Association of 46XY/45XO Mosaic Turner Syndrome and Mullerian Agenesis

Gonadal dysgenesis and Müllerian agenesis are rare congenital developmental disorders that are known to cause primary amenorrhea. They occur in approximately 1 in 2500 live births and in 1 in 4500-5000 females. We report a case of a 17-year-old girl who presented to our clinic on account of short stature and primary amenorrhea. Investigations revealed hypergonadotropic hypogonadism and absent ovaries uterus, upper part of the vagina, and right kidney on imaging. The karyotype showed 46, XY [12]/45, X[20] (mosaic Turner syndrome). The rare association of 46XY/45X mosaicism and Mullerian agenesis has significant clinical implications due to its known effects on growth and development, hormonal balance, reproductive capability, cultural implications, and psychological well-being.