Berková M, Berka Z, Krcová Z
I. interní klinika Lékarské fakulty UP a FN Olomouc.
Vnitr Lek. 2009 May;55(5):501-5.
Turner syndrome is one of the most frequent genetic disorders, the result of complete or partial monosomy of the X chromosome. It affects 1 : 2,500 live female births. The principal features of Turner syndrome are short stature and ovarian dysgenesis accompanied by estrogen deficit. Turner syndrome is associated with further numerous, more or less serious abnormalities and high risk of cardiovascular mortality. The article concisely summarizes the most frequent problems in Turner syndrome and emphasizes the need of multidisciplinary care for affected patients.
特纳综合征是最常见的遗传性疾病之一，是X染色体完全或部分单体性的结果。其发病率为1:2500活产女婴。特纳综合征的主要特征是身材矮小和卵巢发育不全，并伴有雌激素缺乏。特纳综合征还伴有许多或轻或重的其他异常情况以及心血管疾病高死亡率风险。本文简要总结了特纳综合征最常见的问题，并强调了对受影响患者进行多学科护理的必要性。
