title: Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
abstract: OBJECTIVE
  Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in increased adrenal androgen secretion. When the deficiency is severe, the result is the salt losing (SL) form, and when the deficiency is partial, the result is the simple virilizing (SV) form of CAH. We documented long-term satisfaction with gender, cosmetic appearance and function of the genitalia, and surgical management practices in a group of women with CAH due to 21-hydroxylase deficiency.
  
  
  METHODS
  Psychosexual and surgical outcome were assessed in 41 women with CAH using an interview, a written questionnaire and a physical examination. When appropriate, outcome measures were compared to those in unaffected control women.
  
  
  RESULTS
  Women in the SL group were more likely to question their female gender and report sexual concerns, and less likely to have sexual relations with a partner than those with the SV form or control women. Overall women with CAH were moderately satisfied with the cosmetic appearance of the genitalia but the SL group reported worse genital function than the SV group. Physician rated appearance of the genitalia was better than ratings provided by patients and women with the SL form were judged to have a worse cosmetic outcome of genital reconstruction than women with the SV form. The most common response concerning the optimal timing for genital reconstruction was during infancy and early childhood, although a number of women favored waiting until later for these procedures or did not respond to this question.
  
  
  CONCLUSIONS
  Women with the SV form reported greater satisfaction and fewer concerns regarding their psychosexual and surgical outcome than women with the SL form.
authors.affiliation: Department of Pediatrics, The James Buchanan Brady Urological Institute, The Johns Hopkins School of Medicine, The Johns Hopkins University, Baltimore, Maryland, USA. amy@jhu.edu
authors.forename: Amy B
authors.initials: AB
authors.lastname: Wisniewski
authors.forename: Claude J
authors.initials: CJ
authors.lastname: Migeon
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Malouf
authors.forename: John P
authors.initials: JP
authors.lastname: Gearhart
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000523:psychology* / Q000601:surgery; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008875:Middle Aged; D017060:Patient Satisfaction; D011606:Psychosexual Development; D011795:Surveys and Questionnaires