Ranke Michael B
Pediatr Endocrinol Rev. 2015 Jun;12(4):356-65.
Turner Syndrome (TS) is a rare disorder, characterized by numerous signs and symptoms, which are also highly variable in their expression in individuals. The understanding of the genetic basis of the phenotype has advanced greatly during the past decades. The most consistent features, which negatively affect the quality of life in these individuals, are short stature and impaired gonadal function. After recombinant human growth hormone (rhGH) became available and was shown to improve height, it was then approved and has been used widely. Yet it remains a challenge to decide on the optimal treatment modality for individuals with TS and to evaluate the benefits and risks also in terms of karyotype of GH on growth and on other organ systems. This article reviews some of the major aspects related to these issues.
特纳综合征(TS)是一种罕见疾病,其特征为众多体征和症状,且在个体中的表现差异很大。在过去几十年里,对该表型遗传基础的理解有了很大进展。最一致的特征是身材矮小和性腺功能受损,这些对这些个体的生活质量产生负面影响。重组人生长激素(rhGH)问世并被证明可改善身高后,获得批准并得到广泛应用。然而,为特纳综合征患者确定最佳治疗方式,并根据生长激素的核型评估其对生长及其他器官系统的益处和风险,仍然是一项挑战。本文综述了与这些问题相关的一些主要方面。