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Endocr Connect. 2018 Mar;7(3):466-478. doi: 10.1530/EC-18-0031. Epub 2018 Feb 28.

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

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Department of EndocrinologyMetabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
Department of Molecular Medicine and SurgeryKarolinska Institutet, Stockholm, Sweden.
Department of Pediatric Endocrine DiseaseRadboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Medizinische Klinik and Poliklinik IVDepartment of Endocrinology, University Hospital Munich, Munich, Germany.
Department of Andrology and Reproductive EndocrinologyMedical University of Lodz, Lodz, Poland.
Department of Women's and Children's HealthKarolinska Institutet, Stockholm, Sweden.
Department of Paediatric EndocrinologyAstrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden.
Coordinating Center for Clinical StudiesCharité Universitätsmedizin, Berlin, Germany.
Paris-Sud UniversityOrsay, France.
Department of Pediatric EndocrinologyHôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
Department of Medical PsychologyVU University Medical Center, Amsterdam, The Netherlands.
Department of Paediatric Endocrinology and DiabetologyCharité Universitätsmedizin, Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.



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 (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.


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.


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.


Klinefelter syndrome; Turner syndrome; age at diagnosis; cardiovascular; comorbidities; congenital adrenal hyperplasia; healthy lifestyle; metabolic; psychiatric; suicide

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