Objective: To study the relationship of karyotypes and gonadal development in children with Turner syndrome.
Methods: Fifty-one children with Turner syndrome were studied. Pelvic ultrasonography was performed on the children. Twenty healthy age-matched girls were used as control group.
Results: Eleven kinds of karyotypes were detected in 51 children with Turner syndrome. Children were classified into two groups based on karyotypes: Group 1 (45,XO; n= 24) and Group 2 (karyotypes other than 45, XO; n=27). 45,XO karyotype was the most common (47.1%), followed by 46,X,i (Xq)/45, XO (21.6%), 46,XX/45, XO (7.8%) and 47,XXX/45, XO (5.9%). Pelvic ultrasonography showed a primordial uterus in 41 cases, infantile uterus in 7 cases, congenital absence of uterus and ovary in 3 cases, simple anovarism in 42 cases and ovarian dysgenesis in 6 cases. Uterine size in both Groups 1 and 2 were significantly smaller than those of the control group (P<0.05). Group 1 showed smaller size of uterus than Group 2 (P<0.05). Ovaries were not detected in all Group 1 patients.
Conclusions: The dysplasia and atrophy of ovaries and uterus exist in children with Turner syndrome. The patients with 45,XO karyotype had poorer gonadal development than those with other karyotypes.