特纳综合征与骨质疏松症的研究进展

Advances in the study of Turner syndrome and osteoporosis

骨质疏松症已成为威胁特纳综合征(turner syndrome,TS)患者健康与生活质量的重要原因。研究发现在TS患者中,多种因素的组合,包括雌激素缺乏、X染色体单倍性不足、卵泡刺激素(follicle-stimulating hormone,FSH)的改变、维生素D缺乏以及合并症(如乳糜泻和糖尿病)可能通过改变这些途径导致骨脆性增加,且与健康女性相比,特纳综合征女性的骨质密度较低,骨折率较高。现有研究尚未针对此类患者提出后续抗骨质疏松治疗。该文通过综述Turner综合征发生骨质疏松症的潜在机制,总结其临床表现,为骨质疏松症的治疗提供建议,以便尽最大努力改善患者的整体骨骼状况。

Osteoporosis has become a major threat to the health and quality of life of patients with Turner syndrome(turner syndrome,TS).It has been found that in patients with TS,a combination of factors,including oestrogen deficiency,X-chromosome haploinsufficiency,alterations in FSH(follicle-stimulating hormone,FSH),vitamin D deficiency,and comorbidities(e.g.,coeliac disease and diabetes mellitus)may lead to an increase in bone fragility by altering these pathways.Compared to healthy women,women with Turner syndrome have lower bone mineral density and higher fracture rates.Available studies have not suggested follow-up anti-osteoporosis treatment for such patients.In this article,we review the potential mechanisms by which osteoporosis occurs in Turner syndrome,summarize its clinical manifestations,and provide recommendations for osteoporosis treatment in order to maximize efforts to improve the overall skeletal condition of the patients.