Prevalence of diverse complications and its association with karyotypes in Japanese adult women with Turner syndrome-a questionnaire survey by the Foundation for Growth Science-
Prevalence of diverse complications and its association with karyotypes in Japanese adult women with Turner syndrome-a questionnaire survey by the Foundation for Growth Science-
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DOI：
10.1507/endocrj.ej17-0401
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发表时间：
2018-01-01
影响因子：
2
通讯作者：
Yokoya, Susumu
中科院分区：
文献类型：
--
作者：
Hanew, Kunihiko;Tanaka, Toshiaki;Yokoya, Susumu
由于Turner综合征（TS）的罕见性和分析的数量有限，因此报告的并发症患病率差异很大。同样，还推测可能存在其他未描述为TS特异性的并发症。为了解决这些问题，对492例成人TS（17-42岁）患者进行了问卷调查。分析了这些并发症与染色体核型的可能关系。并发症及其患病率依次为慢性甲状腺炎（25.2%）、炎症性肠病（1.8%）、先天性心血管畸形（11.8%）、尿路畸形（11.8%）、低骨密度（42.9%）、脊柱侧凸（8.4%）、听力下降（6.2%）、癫痫（2.8%）和精神分裂症（0.9%）。TS中这些疾病的大多数患病率高于一般人群。在分布上，以45，X单体性最多（28.9%），其次为45，X/46，X，Xi（16.9%）、46，X，Xi（9.1%）和45，X/46，XX（6.3%），其它嵌合体45，X占29.9%。在核型方面，45，X组心血管异常发生率较高，而46，X，Xi组较少。泌尿系畸形和癫痫常与45号染色体X染色体有关。46，X，Xi和45，X/46，X，Xi的低骨密度患病率较高，其他嵌合体45，X的低骨密度患病率较低。总之，阐明了各种并发症的更准确患病率，其超过了一般人群中大多数并发症的患病率。作为新的发现，观察到癫痫的患病率显着高，癫痫和低BMD往往与特定的核型。
The reported prevalence of complications in Turner Syndrome (TS) was highly variable because of the rarity and the limited numbers analyzed. Again, possible presence of other complications that are not described as specific for TS, is also speculated. To resolve these issues, a questionnaire survey was conducted in hGH treated 492 patients with adult TS (17-42 years). The possible association with these complications and karyotypes were also analyzed. The complications and their prevalence were as follows: chronic thyroiditis (25.2%), inflammatory' bowel disease (1.8%), congenital cardiovascular anomaly (11.8%), urinary tract malformation (11.8%), low bone mineral density (BMD) (42.9%), scoliosis (8.4%), hearing loss (6.2%), epilepsy (2.8%) and schizophrenia (0.9%). The majority of prevalence of these diseases in TS was higher than in the general population. In distribution, the most frequent karyotype was 45,X monosomy (28.9%), followed by 45,X/46,X,Xi (16.9%), 46,X,Xi (9.1%), and 45,X/46,XX (6.3%), while other mosaic 45,X was noted in 29.9%. Regarding the karyotype, cardiovascular anomaly was more frequent in the 45,X group and less in the 46,X,Xi group. Urinary tract malformation and epilepsy were frequently associated with the chromosome 45,X. The prevalence of low BMD was noticed more in the chromosome 46,X,Xi and 45,X/46,X,Xi, and less in other mosaic 45,X. In conclusion, the more exact prevalence of diverse complications was clarified and it exceeded the prevalence of the majority of complications in general population. As novel findings, it was observed that the prevalence of epilepsy was significantly high, and epilepsy and low BMD were frequently associated with the specific karyotypes.