Karnis Megan Freebury, Reindollar Richard H
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Hamilton Health Sciences Corporation, McMaster University Medical Centre, 1200 Main Street West, Room 3N52B, Hamilton, ON, Canada L8N 3Z5.
Obstet Gynecol Clin North Am. 2003 Jun;30(2):303-20. doi: 10.1016/s0889-8545(03)00026-3.
The management of a patient with Turner syndrome is complex and multi-faceted. It is best accomplished by an interdisciplinary approach. Initial diagnosis is generally prenatal or suggested by physical characteristics. Diagnosis should include karyotype analysis and potentially a probe for Y-chromosome centromeric material to assess the risk for the development of germ cell tumors. At the time of initial diagnosis, the patient should be thoroughly investigated for associated medical conditions. Ongoing surveillance for the development of complications is of paramount importance. The interdisciplinary team should include an endocrinologist; cardiologist; nephrologist; reproductive endocrinologist; audiological physician; ear, nose and throat surgeon; plastic surgeon; dentist; and psychologist . It is important to provide to girls and women with Turner syndrome, and their families, comprehensive information about the syndrome and to advise them about the availability of Turner syndrome societies that can provide information and support.
特纳综合征患者的管理复杂且涉及多方面。最好通过多学科方法来完成。初始诊断通常在产前进行,或由身体特征提示。诊断应包括核型分析,可能还需进行Y染色体着丝粒物质检测,以评估生殖细胞肿瘤发生的风险。在初次诊断时,应对患者进行全面检查以排查相关疾病。持续监测并发症的发生至关重要。多学科团队应包括内分泌学家、心脏病学家、肾病学家、生殖内分泌学家、听力学医师、耳鼻喉科外科医生、整形外科医生、牙医和心理学家。向患有特纳综合征的女孩和妇女及其家庭提供关于该综合征的全面信息,并告知她们特纳综合征协会的情况,这些协会可以提供信息和支持,这一点很重要。