Freriks K, Beerendonk C C M, Timmermans J, Braat D D M, Hermus A R M M, Timmers H J L M
Afd. Endocriene Ziekten (471), Universitair Medisch Centrum St Radboud, Postbus 910I, 6500 HB Nijmegen.
Ned Tijdschr Geneeskd. 2007 Jul 21;151(29):1616-22.
Turner syndrome is the result of the complete or partial absence of one X-chromosome. As well as short stature and gonadal dysgenesis, a wide range of abnormalities which may not present themselves until adulthood, are seen in nearly every organ system. Adult women with this syndrome have a reduced estimated life expectancy due to the greatly increased risk of structural abnormalities of the heart and aorta, and of other cardiovascular disease. The latter is due to the higher prevalence of hypertension, type-2 diabetes mellitus and dyslipidaemia. Furthermore, Turner syndrome in adulthood is characterized by infertility and oestrogen substitution is often necessary. Due to the diverse and interconnected nature of these problems, women with Turner syndrome benefit from coordinated medical care provided by a multidisciplinary outpatient team including an internist-endocrinologist, a gynaecologist and a cardiologist. We advise a periodic medical screening of women with this syndrome.
特纳综合征是由于一条X染色体完全或部分缺失所致。除身材矮小和性腺发育不全外,几乎每个器官系统都存在一系列直到成年才会显现的异常情况。患有这种综合征的成年女性预期寿命缩短,原因是心脏和主动脉结构异常以及其他心血管疾病的风险大幅增加。后者是由于高血压、2型糖尿病和血脂异常的患病率较高。此外,成年特纳综合征的特征是不孕,通常需要进行雌激素替代治疗。由于这些问题具有多样性和相互关联性,患有特纳综合征的女性受益于由包括内科内分泌专家、妇科医生和心脏病专家在内的多学科门诊团队提供的协调医疗护理。我们建议对患有这种综合征的女性进行定期医学筛查。