Engberg Hedvig, Möller Anders, Hagenfeldt Kerstin, Nordenskjöld Agneta, Frisén Louise
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Child and Adolescent Psychiatry Research Center, Stockholm, Sweden.
Clin Endocrinol (Oxf). 2016 Jul;85(1):21-8. doi: 10.1111/cen.13054. Epub 2016 Apr 13.
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.
DESIGN, SETTING AND PARTICIPANTS: 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.
先天性肾上腺皮质增生症（CAH）最常见的病因是CYP21A2基因突变，导致皮质醇和醛固酮缺乏，雄激素生成增加。
描述患有CAH的女性如何体验她们的病情以及所接受的治疗。
设计、背景和参与者：对13名成年瑞典CAH女性进行的半结构化访谈被转录。通过定性内容分析对数据进行分析，以描述这些经历的变异性。
对参与者生活经历的定性评估。
参与者患CAH的经历分为四个不同类别。1. 信息包括与医疗服务提供者互动、知识获取和信息披露的经历。2. 暴露包括生殖器检查的经历、医疗对生殖器的关注以及多次被拍照的经历。3. 健康涵盖了对患有需要药物治疗甚至有时需要手术的疾病的自我认知经历。4. 研究包括对患有一种经过充分科学研究的疾病的经历。羞耻感的不同经历在所有类别中反复出现，从而形成了潜在主题。
增加信息并认识到患有CAH的女性是一个具有个体需求的异质性群体，有助于她们体验先天性肾上腺皮质增生症。增加父母的支持以及提高医护人员的知识水平，以便在孩子成长过程中为其提供持续支持和应对策略，可能会平衡羞耻感。基于本研究确定的主题，未来有几个研究方向可供探索。
