Mosaic form (45X/46XX) of Turner's syndrome. A case report

Turner's syndrome (TS) is a sex chromosome disorder occurring in 1 in 2,500 female births and in approximately 50 in 100,000 adult females and is characterized by retarded growth, gonadal dysgenesis and infertility. The 45,X/46,XX chromosomal pattern is the most frequent mosaic type of this disease (36%).

The mosaic form of TS was diagnosed in a 25-year-old, nulliparous woman whose major symptoms were menstrual irregularity and menorrhagia. She had normal development of secondary sexual characteristics and spontaneous menarche despite a very low amount (7%) of normal cells.

Dysfunctional uterine bleeding is very uncommon in TS. Mosaic forms of TS may have very few features of TS despite a very low range of normal cells.