Santos Vera, Marçal Mónica, Amaral Daniela, Pina Rosa, Lopes Lurdes, Fonseca Guilhermina
Unidade de Endocrinologia Pediátrica, Área Departamental de Pediatria Médica, Hospital Dona Estefânia, Lisboa.
Acta Med Port. 2010 Sep-Oct;23(5):873-82. Epub 2010 Oct 22.
Turner syndrome is one of the most frequent chromosome disorders in clinical practice. It is characterized by a multisystemic involvement, responsible for a high morbidity and an increased mortality at all ages. Therefore it is essential that there is a continuous and integrated approach in reference centers to improve the quality of life and prevent early mortality. There has been a growing interest in the scientific community to achieve these goals, with the publication of clinical guidelines. This article intends to review these guidelines, with particular emphasis on a multidisciplinary care of these patients from the age of diagnosis and throughout their adult life.
特纳综合征是临床实践中最常见的染色体疾病之一。其特征是多系统受累，导致各年龄段的发病率和死亡率均升高。因此，参考中心采用持续且综合的方法以提高生活质量并预防过早死亡至关重要。随着临床指南的发布，科学界对实现这些目标的兴趣日益浓厚。本文旨在对这些指南进行综述，尤其着重于从诊断年龄到成年期对这些患者的多学科护理。
