Physical and Reported Subjective Health Status in 222 Individuals with XY Disorder of Sex Development

Author:

Gong Xin Li1,Raile Klemens1,Slowikowska-Hilczer Jolanta2,Pienkowski Catherine3,Quinkler Marcus4ORCID,Roehle Robert56,Nordenström Anna7,Neumann Uta8ORCID

Affiliation:

1. Charité–Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Pediatric Endocrinology and Diabetology, Berlin, Germany

2. Department of Andrology and Reproductive Endocrinology, Medical University of Lodz, Lodz, Poland

3. Reference Center for Rare Gynecological Pathologies, Pediatric Endocrinology Unit, Children’s Hospital, CHU Toulouse, France

4. Endocrinology in Charlottenburg, Berlin, Germany

5. Charité—Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Biometry and Clinical Epidemiology, Coordinating Center for Clinical Studies, Berlin, Germany

6. Berlin Institute of Health (BIH), Berlin, Germany

7. Women´s and Children´s Health, Karolinska Institutet, Stockholm, Sweden

8. Charité–Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Center for chronic sick children, Department of Pediatric Endocrinology, Berlin, Germany

Abstract

Abstract 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. 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 body mass index of 24.1 ± 6.0 kg/m2. Obesity rate was not increased when descriptively compared with Eurostat data. Fourteen patients had metabolic syndrome (14/175; 8.0%). In descriptive comparison with data from the DECODE study and World Health Organization, 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 with Eurostat data. Conclusion Participants reported a lower subjective health status than 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.

Funder

European Union’s Seventh Framework Programme

Publisher

The Endocrine Society

Subject

Endocrinology, Diabetes and Metabolism

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