Turner综合征患儿染色体核型和盆腔超声的分析

Karyotypes and pelvic ultrasonography in children with Turner syndrome

摘要:

目的：分析和探讨Turner综合征患儿染色体核型与子宫、卵巢发育的相关关系。方法：对51例经外周淋巴细胞染色体检查确诊Turner综合征患儿，分两组(I组：45，XO；II组：其他核型)行盆腔超声，记录子宫、卵巢的各径线。 结果：有11种核型，均有特征性的X染色体数目异常或结构异常。主要包括：45，XO(47.1%)、46，X，i(Xq)/45,XO(21.6%)、46,XX/45,XO (7.8%)、47,XXX/45,XO (5.9%)等。51例盆腔超声检查结果：始基子宫41例(80.4%)、幼稚子宫7例(13.7%)、同时无子宫卵巢3例(5.9%)、单纯无卵巢42例(82.4%)、有卵巢6例(11.8%)。患儿子宫各径线明显低于正常对照组(P<0.05)，I组患儿子宫各径线低于II组(P<0.05)。结论：Turner综合征各种类型患儿存在不同程度的子宫、卵巢发育不全或退化萎缩，以45,XO最典型，提示身材矮小或闭经女孩应常规作核型分析和盆腔超声检查。

Abstract:

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.