Allybocus Z A, Wang C, Shi Hr, Wu Qh
a Center of Genetic and Prenatal Diagnosis, Department of Gynecology , The First Affiliated Hospital of Zhengzhou University , Henan Province , China.
Climacteric. 2018 Dec;21(6):536-541. doi: 10.1080/13697137.2018.1501674. Epub 2018 Nov 1.
Ovarian dysgenesis, short stature, and infertility are common features of Turner syndrome (TS). Endocrinopathies and cardiopathies are less common, but may induce significant complications, and are the leading cause of mortality in TS patients. Endocrine abnormality including osteoporosis occurs in up to 60% of patients, hypothyroidism at an incidence of 3.2%, and impaired glucose metabolism with variable incidence depending on the age group. Estrogen therapy and growth hormone therapy, alone or combined, improve height and bone mass in TS patients. Autoimmune hypothyroidism is prone in the X-isochromosome phenotypes in the first and second decades of TS women's life. Type 2 diabetes mellitus resulting from haploinsufficiency of Xp genes and quiescent β-cell autoimmunity occurs with higher frequency in TS patients in different age groups. The prevalence of cardiopathies in TS patients is 23%, with coarctation of aorta and bicuspid aortic valve being the most common cardiovascular malformations. Multidisciplinary and long-term medical healthcare is needed for TS patients. The risks of cardiovascular defects require close ultrasonography monitoring through the patient's lifespan, especially during pregnancy. The goal of this review is to provide an overview of endocrinopathies and cardiopathies in patients with TS.
卵巢发育不全、身材矮小和不孕是特纳综合征（TS）的常见特征。内分泌疾病和心脏病较少见，但可能引发严重并发症，且是TS患者死亡的主要原因。内分泌异常包括骨质疏松症，在高达60%的患者中出现，甲状腺功能减退症的发病率为3.2%，葡萄糖代谢受损的发病率因年龄组而异。雌激素疗法和生长激素疗法单独或联合使用，可改善TS患者的身高和骨量。自身免疫性甲状腺功能减退症在TS女性生命的第一个和第二个十年的X等臂染色体表型中易发生。Xp基因单倍剂量不足和静止性β细胞自身免疫导致的2型糖尿病在不同年龄组的TS患者中发生率较高。TS患者中心脏病的患病率为23%，主动脉缩窄和二叶主动脉瓣是最常见的心血管畸形。TS患者需要多学科和长期的医疗保健。心血管缺陷的风险需要在患者的整个生命周期内密切进行超声监测，尤其是在怀孕期间。本综述的目的是概述TS患者的内分泌疾病和心脏病。
