title: The experience of women living with Congenital Adrenal Hyperplasia: impact of the condition and the care given.
abstract: Congenital adrenal hyperplasia (CAH) is caused most often by mutations in the CYP21A2 gene, resulting in cortisol and aldosterone deficiency and increased production of androgens.
  
  
  
  To describe how women with CAH experience their condition and the care given.
  
  
  
  Semi-structured interviews with 13 adult Swedish women with CAH were transcribed. Data were analysed by qualitative content analysis to describe the variability in the experiences.
  
  
  
  Qualitative evaluation of the participants' life experiences.
  
  
  
  The participants' experiences of having CAH are described in four different categories. 1. Information comprises the experiences of interaction with healthcare providers, knowledge acquisition and information disclosure. 2. Exposure encompasses the experiences of genital examinations, the medical focus on the genitalia and of being photographed repeatedly. 3. Health covers the self-perceived experiences of having a medical condition that requires pharmacological treatment and sometimes surgery. 4. Research comprises the experiences of having a scientifically well-studied condition. Different experiences of shame reoccur in all categories, thus forming the latent theme.
  
  
  
  The experience of living with congenital adrenal hyperplasia can be facilitated by increased information and by acknowledging that women with CAH are a heterogeneous group with individual needs. Shame may be counterbalanced by increased parental support and increased knowledge among healthcare personnel aimed at providing children with continuous support and coping strategies during their upbringing. Based on the identified themes in this study, there are several research avenues to pursue in the future.
authors.affiliation: Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.|Child and Adolescent Psychiatry Research Center, Stockholm, Sweden.
authors.forename: Hedvig
authors.initials: H
authors.lastname: Engberg
authors.affiliation: Ersta Sköndal University College, Campus Bräcke, Gothenburg, Sweden.
authors.forename: Anders
authors.initials: A
authors.lastname: Möller
authors.affiliation: Department of Women's and Children's Health, Division of Obstetrics and Gynecology, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Hagenfeldt
authors.affiliation: Department of Women's and Children's Health, Pediatric Surgery Unit, and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.|Pediatric Surgery, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.
authors.forename: Agneta
authors.initials: A
authors.lastname: Nordenskjöld
authors.affiliation: Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.|Child and Adolescent Psychiatry Research Center, Stockholm, Sweden.
authors.forename: Louise
authors.initials: L
authors.lastname: Frisén
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000523:psychology* / Q000628:therapy; D000328:Adult; D005260:Female; D005836:Genitalia, Female / Q000473:pathology / Q000601:surgery; D058869:Gynecological Examination / Q000523:psychology; D006801:Humans; D007407:Interviews as Topic; D008016:Life Change Events; D008875:Middle Aged; D010346:Patient Care Management / Q000592:standards; D012752:Shame; D013548:Sweden; D055815:Young Adult