Mullerian Agenesis Associated with Turner’s Syndrome

Abstract

Turner’s syndrome is a chromosomal disorder with 45 X0 due to absence of a set of gene from the short arm of X chromosome. The incidence of Turner’s syndrome is 1 in 2500 live births. Primary amenorrhea is well known in Turner’s syndrome, the reason being streak ovaries; but mullerian agenesis as a cause of primary amenorrhea in Turner’s syndrome is a very rare entity. The incidence of Turner’s syndrome associated with mullerian agenesis is extremely rare as there is only a hand full of cases reported in literature. We report a rare case of adolescent female who presented with primary amenorrhea and found to have Turner’s syndrome with mullerian agenesis.

Keywords

• gonadal dysgenesis
• missing x chromosome
• mullerian development
• mullerian anomaly
• sex chromosome