Nishigaki Satsuki, Hamazaki Takashi, Tsuruhara Akitoshi, Yoshida Toshiko, Imamura Takuji, Inada Hiroshi, Fujita Keinosuke, Shintaku Haruo
Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
Department of Pediatrics, Izumi Municipal Hospital, Osaka, Japan.
Endocr J. 2017 May 30;64(5):499-505. doi: 10.1507/endocrj.EJ16-0370. Epub 2017 Mar 22.
Turner syndrome results from the entire or partial loss of the second X chromosome, and is associated with a number of medical problems. Affected women require long-term medical follow-up. This study investigated the status of medical follow-up focusing on the transition for young adult women with Turner syndrome (TS). The clinical profiles of 63 women with TS over the age of 16 were retrospectively examined. Thirty-three women are continuously followed by pediatric endocrinologists at our pediatric division. Twenty women were transferred to gynecologists as primary care physicians. Eight young adult women dropped out of the regular health check-up from our pediatric division even though 7 women were undergoing estrogen replacement therapy. We further reviewed the complications and management of the 33 women who were continuously followed at our pediatric division. A high incidence of obesity and liver dysfunction were observed in this age group (23.5±8.7). Nineteen out of 33 women consulted a cardiologist in the adult care division for cardiovascular complications. In the analysis of 20 women who were transferred to gynecologists, mainly two gynecologists accepted the transfer and have become accustomed to clinical care for TS. Seven women who were followed by the gynecologist in our facility were adequately managed for lifelong complications. Since there is no clear framework for transition in Japan, coordination with other specialists, especially gynecologists, is essential for the successful management of adult women with TS. Patient education and provision of information are required for establishing self-advocacy, which will prevent drop-out.
特纳综合征是由于第二条X染色体全部或部分缺失所致，与多种医学问题相关。受影响的女性需要长期的医学随访。本研究调查了以特纳综合征（TS）成年女性过渡为重点的医学随访状况。对63名年龄超过16岁的TS女性的临床资料进行了回顾性检查。33名女性由我们儿科部门的儿科内分泌学家持续随访。20名女性转由妇科医生作为初级保健医生。8名成年女性退出了我们儿科部门的定期健康检查，尽管有7名女性正在接受雌激素替代疗法。我们进一步回顾了在我们儿科部门持续随访的33名女性的并发症及治疗情况。在这个年龄组中观察到肥胖和肝功能障碍的高发病率（23.5±8.7）。33名女性中有19名因心血管并发症在成人护理部门咨询了心脏病专家。在对转至妇科医生处的20名女性的分析中，主要有两名妇科医生接受了转诊，并已习惯了对TS的临床护理。在我们机构由妇科医生随访的7名女性得到了针对终身并发症的妥善管理。由于日本没有明确的过渡框架，与其他专科医生，尤其是妇科医生的协调对于成功管理成年TS女性至关重要。为建立自我倡导以防止退出，需要对患者进行教育并提供信息。
