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


METHODS
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.


CONCLUSIONS
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.
Altunyurt
Sabahattin
S
Departments of Obstetrics and Gynecology and of Medical Biology, Faculty of Medicine, Dokuz Eylul Universitesi, Izmir, Turkey. s.altunyurt@deu.edu.tr
Acar
Berrin
B
Guclu
Serkan
S
Saygili
Uğur
U
Sakizli
Meral
M
D000328:Adult; D041321:Chromosomes, Human, X; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008572:Menarche; D008595:Menorrhagia / Q000209:etiology* / Q000235:genetics*; D009030:Mosaicism; D012727:Sex Characteristics; D014424:Turner Syndrome / Q000235:genetics*