Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study. Issue 3 (March 2018)

• Record Type: Journal Article
• Authors: Falhammar, Henrik; Claahsen-van der Grinten, Hedi; Reisch, Nicole; Slowikowska-Hilczer, Jolanta; Nordenström, Anna; Roehle, Robert; Bouvattier, Claire; Kreukels, Baudewijntje P C; Köhler, Birgit
• Is Part Of: Endocrine connections. Volume 7:Issue 3(2018)
• Page Start: 466
• Page End: 478
• Publication Date: 2018-03
• Subjects: congenital adrenal hyperplasia -- Klinefelter syndrome -- Turner syndrome -- age at diagnosis -- healthy lifestyle -- psychiatric -- suicide -- cardiovascular -- metabolic -- comorbidities; Endocrinology -- Periodicals; 616.4005
• DOI: 10.1530/EC-18-0031
• Languages: English
• ISSNs: 2049-3614

Abstract

Abstract : 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.