期刊
ENDOCRINE CONNECTIONS
卷 7, 期 3, 页码 466-478出版社
BIOSCIENTIFICA LTD
DOI: 10.1530/EC-18-0031
关键词
congenital adrenal; hyperplasia; Klinefelter syndrome; Turner syndrome; age at diagnosis; healthy lifestyle; psychiatric; suicide; cardiovascular; metabolic; comorbidities
资金
- European Union [305373]
- Karolinska Institutet
- Magnus Bergvalls Stiftelse
- Else Kroner-Fresenius-Stiftung [2011-EKMS.21]
- European Community (Marie Curie European Reintegration Grant) [PERG-GA-2010-268270]
- Polish Ministry of Science and Higher Education [2922/7.PR/2013/2]
- Stockholm county council
Objective: The knowledge about health status in adults with disorder of sex development (DSD) is scarce. Design and methods: 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 (n = 301), Klinefelter (n = 224), XY-DSD (n = 222), XX-DSD (excluding congenital adrenal hyperplasia (CAH) and 46,XX males) (n = 21), 46,XX-CAH (n = 226) and 45,X/46,XY (n = 45). Perceived and objective health statuses were measured and compared to European control data. Results: 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%, P<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%, P< 0.0001 both). Any disorder except DSD was present in 84.3% (controls 24.6%, P< 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. Conclusions: 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.
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