Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study.

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 ( = 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.

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%,  < 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.

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.