Falhammar Henrik, Claahsen-van der Grinten Hedi, Reisch Nicole, Slowikowska-Hilczer Jolanta, Nordenström Anna, Roehle Robert, Bouvattier Claire, Kreukels Baudewijntje P C, Köhler Birgit
Department of EndocrinologyMetabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
Department of Molecular Medicine and SurgeryKarolinska Institutet, Stockholm, Sweden.
Endocr Connect. 2018 Mar;7(3):466-478. doi: 10.1530/EC-18-0031. Epub 2018 Feb 28.
The knowledge about health status in adults with disorder of sex development (DSD) is scarce.
A cross-sectional observational study in 14 European tertiary centers recruited 1040 participants (717 females, 311 males, 12 others) with DSD. Mean age was 32.4 ± 13.6 year (range 16-75). The cohort was divided into: Turner ( = 301), Klinefelter ( = 224), XY-DSD ( = 222), XX-DSD (excluding congenital adrenal hyperplasia (CAH) and 46,XX males) ( = 21), 46,XX-CAH ( = 226) and 45,X/46,XY ( = 45). Perceived and objective health statuses were measured and compared to European control data.
In DSD, fair to very good general health was reported by 91.4% and only 8.6% reported (very) bad general health (controls 94.0% and 6.0%, < 0.0001). Longstanding health issues other than DSD and feeling limited in daily life were reported in 51.0% and 38.6%, respectively (controls 24.5% and 13.8%, < 0.0001 both). Any disorder except DSD was present in 84.3% (controls 24.6%, < 0.0001). Males reported worse health than females. In the subgroup analysis, Klinefelter and 46,XX-DSD patients reported bad general health in 15.7% and 16.7%, respectively (Turner 3.2% and CAH 7.4%). Comorbidities were prevalent in all DSD subgroups but Klinefelter and Turner were most affected. Early diagnosis of DSD and a healthy lifestyle were associated with less comorbidities.
Overall, general health appeared to be good but a number of medical problems were reported, especially in Klinefelter and Turner. Early diagnosis of DSD and a healthy lifestyle seemed to be important. Lifelong follow-up at specialized centers is necessary.
关于性发育障碍（DSD）成年患者健康状况的了解较少。
一项在14个欧洲三级中心开展的横断面观察性研究招募了1040名患有DSD的参与者（717名女性、311名男性、12名其他性别）。平均年龄为32.4±13.6岁（范围16 - 75岁）。该队列分为：特纳综合征（=301例）、克兰费尔特综合征（=224例）、XY-DSD（=222例）、XX-DSD（不包括先天性肾上腺皮质增生症（CAH）和46,XX男性）（=21例）、46,XX-CAH（=226例）和45,X/46,XY（=45例）。测量了主观和客观健康状况，并与欧洲对照数据进行比较。
在DSD患者中，91.4%的患者报告总体健康状况为中等至非常好，只有8.6%的患者报告（非常）差（对照组分别为94.0%和6.0%，P<0.0001）。分别有51.0%和38.6%的患者报告除DSD外存在长期健康问题以及在日常生活中感到受限（对照组分别为24.5%和13.8%，两者P<0.0001）。84.3%的患者存在除DSD外的任何疾病（对照组为24.6%，P<0.0001）。男性报告的健康状况比女性差。在亚组分析中，克兰费尔特综合征和46,XX-DSD患者分别有15.7%和16.7%报告总体健康状况差（特纳综合征为3.2%，CAH为7.4%）。所有DSD亚组中都普遍存在合并症，但克兰费尔特综合征和特纳综合征受影响最大。DSD的早期诊断和健康的生活方式与较少的合并症相关。
总体而言，总体健康状况似乎良好，但报告了一些医疗问题，尤其是在克兰费尔特综合征和特纳综合征患者中。DSD的早期诊断和健康的生活方式似乎很重要。在专科中心进行终身随访是必要的。
