Ackermann Amanda, Bamba Vaneeta
The Children's Hospital of Philadelphia, Division of Endocrinology and Diabetes, 3400 Civic Center Blvd., Philadelphia, PA 19104, USA.
J Clin Transl Endocrinol. 2014 Jun 5;1(3):61-65. doi: 10.1016/j.jcte.2014.05.003. eCollection 2014 Sep.
Patients with Turner syndrome (TS) require close medical follow-up and management for cardiac abnormalities, growth and reproductive issues. This review summarizes current controversies in this condition, including: 1) the optimal genetic testing for Turner syndrome patients, particularly with respect to identification of Y chromosome material that may increase the patient's risk of gonadoblastoma and dysgerminoma, 2) which patients should be referred for bilateral gonadectomy and the recommended timing of such referral, 3) options for assisted reproduction in these patients and associated risks, 4) the increased risk of mortality associated with pregnancy in this population, and 5) how best to assess and monitor cardiovascular risks.
特纳综合征（TS）患者需要针对心脏异常、生长发育和生殖问题进行密切的医学随访与管理。本综述总结了该病症当前存在的争议，包括：1）特纳综合征患者的最佳基因检测方法，尤其是关于识别可能增加患者患性腺母细胞瘤和无性细胞瘤风险的Y染色体物质；2）哪些患者应转诊接受双侧性腺切除术以及推荐的转诊时机；3）这些患者辅助生殖的选择及相关风险；4）该人群中与妊娠相关的死亡风险增加；5）如何最好地评估和监测心血管风险。
