title: Health-related quality of life and psychological well-being in adults with differences/disorders of sex development.
abstract: OBJECTIVE
  Rare congenital conditions with incongruence of chromosomal, gonadal and phenotypic sex have been classified as differences/disorders of sex development (DSD). Included in DSD are conditions with diverse genetic aetiology, varying levels of prenatal androgen effects, phenotypes and, subsequently, different medical treatments. Quality of life (QoL) and psychological well-being are indicators of successful psychosocial adaptation to the conditions. We sought to investigate the HRQoL and psychological well-being in this population.
  
  
  METHODS
  This multicentre clinical evaluation study was part of a German network related to DSD funded by the German Ministry of Science and Education (BMBF 2003 to 2007).
  
  
  METHODS
  To assess health-related quality of life (HRQoL), we used the Short Form Health Survey (SF-36), and for psychological well-being, the Brief Symptom Inventory (BSI). Participants were classified into five groups: females with CAH, females with XY DSD conditions where there is a partial androgen effect (partial androgen insensitivity, mixed/partial gonadal dysgenesis, disorders of androgen biosynthesis), females with XY DSD without androgen effect (complete androgen insensitivity, complete gonadal dysgenesis), males with XY DSD, and individuals with DSD conditions and other gender.
  
  
  RESULTS
  Participants included 110 adults with DSD (age range 17-62). We found a trend of lowered mental HRQoL and significant higher physical HRQoL for participants as compared to the norm. The high physical HRQoL especially applied to females with androgen effect and XY karyotype. Participants reported significant higher psychological distress compared to the norm. Forty-seven participants (42·7%) reported distress in a clinically relevant range on the BSI.
  
  
  CONCLUSIONS
  Although we did not find significant impairments in overall HRQoL, participants reported significant impaired psychological well-being. Specialized interdisciplinary care should focus in particular on psychological issues to ensure good overall health and well-being.
authors.affiliation: Division of Endocrinology and Diabetology, Department of Paediatrics, Charité, University Medicine, Berlin, Germany.
authors.forename: Elena
authors.initials: E
authors.lastname: Bennecke
authors.affiliation: Hospital for Children and Adolescents, University of Lübeck, Lübeck, Germany.
authors.forename: Ute
authors.initials: U
authors.lastname: Thyen
authors.affiliation: Division of Endocrinology and Diabetology, Department of Paediatrics, Charité, University Medicine, Berlin, Germany.
authors.forename: Annette
authors.initials: A
authors.lastname: Grüters
authors.affiliation: Institute for Biometrics and Medical Informatics, Otto-von-Guericke University, Magdeburg, Germany.
authors.forename: Anke
authors.initials: A
authors.lastname: Lux
authors.affiliation: Division of Endocrinology and Diabetology, Department of Paediatrics, Charité, University Medicine, Berlin, Germany.
authors.forename: Birgit
authors.initials: B
authors.lastname: Köhler
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000728:Androgens; D058490:Disorder of Sex Development, 46,XY; D012734:Disorders of Sex Development / Q000523:psychology*; D005260:Female; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D011788:Quality of Life / Q000523:psychology*; D013315:Stress, Psychological / Q000209:etiology; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: D000728:Androgens