Context Little is known about the physical health of individuals with 46,XY disorders of sex development (DSD). Objective To assess physical and reported subjective health of individuals with XY DSD. Design and methods As part of the dsd-LIFE study, patients with an XY DSD condition were analyzed in different diagnosis groups for metabolic parameters, comorbidities, metabolic syndrome, bone outcomes, and reported subjective health. Findings were evaluated by descriptive statistics. Results A total of 222 patients with XY DSD were included with a mean age of 28.8±12.2 years, mean height of 175.3±7.7 cm, mean weight of 74.3±20.0 kg and mean BMI of 24.1±6.0 kg/m 2. Obesity rate was not increased when descriptively compared to Eurostat data. Fourteen patients had metabolic syndrome (14/175; 8.0%). In descriptive comparison to data from the DECODE study and WHO, subjects fared better in the categories waist circumference, glucose, triglyceride, cholesterol and high-density lipoprotein. Of participants with available bone health data, 19/122 (15.6%) patients had a Z-score ≤ - 2.0 at lumbar spine indicating lowered bone mineral density (BMD). Mostly gonadectomized individuals with complete androgen insensitivity syndrome (CAIS) and no estrogen therapy had lowered BMD at lumbar spine. Individuals with XY DSD performed poorly in the category subjective health in descriptive comparison to Eurostat data. Conclusion Participants reported a lower subjective health status compared to Eurostat data but their overall metabolic health status was good. Decreased BMD at lumbar spine was especially present in gonadectomized individuals with CAIS and no estrogen therapy.
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