Search

Study Objective: To explore how women with congenital adrenal hyperplasia (CAH) describe their experiences of gender role behavior, psychosexual development, and intimate relationships. CAH results in increased androgen exposure in affected females, and is the most common reason for unclear sex at birth. Women with CAH have been studied to find answers to the role of androgens in psychosexual development. Nevertheless, factors that may account for the variability of outcomes in women with CAH are unclear., Design, Setting and Participants: This was a qualitative study with 13 Swedish women (aged ≥18 years) with CAH. Semi-structured interviews were analyzed using inductive content analysis., Main Outcome Measures: Direct quotes of patients' experiences derived from interview transcripts were sorted in categories, subcategories, and according to latent theme., Results: The main categories were "forming identity" and "establishing relationships." Forming identity encompasses that of a girl, a tomboy, and/or a woman. Establishing relationships focuses on intimate relationships, pregnancy, and parenthood. A latent theme was interpreted as "shifting perspectives," with CAH being the main focus of some participants' lives but a side issue for others., Conclusion: These women's experiences are varied and describe shifting perspectives on how much CAH affects their lives. Health care providers can play an important role in helping women with CAH to separate what is caused by the condition and what is not. The long-term goal is to help girls and women to feel in control of their condition across their whole life., (Copyright © 2020 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Context: 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., Objective: 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., Main Outcome Measures: Qualitative evaluation of the participants' life experiences., Results: 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., Conclusion: 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., (© 2016 The Authors. Clinical Endocrinology Published by John Wiley & Sons Ltd.)

Congenital adrenal hyperplasia (CAH) is a chronic condition and individuals are exposed to elevated androgen levels in utero as a result of the endogenous cortisol deficiency. Prenatal androgen exposure has been suggested to influence mental health, but population based studies on psychiatric morbidity among girls and women with CAH are lacking. Therefore, we performed a cohort study based on Swedish nationwide registers linked with the national CAH register. Girls and women with CAH due to 21-hydroxylase deficiency (n = 335) born between January 1915 and January 2010 were compared with aged-matched female (n = 33500) and male controls (n = 33500). Analyses were stratified by phenotype [salt wasting (SW), simple virilizing (SV), and non-classical type (NC)] and by CYP21A2 genotype subgroups (null, I2splice, I172N, and P30L). Results are presented as estimated risks (OR, 95%CI) of psychiatric disorders among girls and women with CAH compared with age-matched controls. Any psychiatric diagnoses were more common in CAH females compared with female and male population controls [1.9 (1.4-2.5), and 2.2 (1.7-2.9)]. In particular, the risk of alcohol misuse was increased compared with female and male population controls [2.8 (1.7-4.7) and 2.1 (1.2-3.5)], and appeared most common among the girls and women with the most severe null genotype [6.7 (2.6-17.8)]. The risk of stress and adjustment disorders was doubled compared with female population controls [2.1 (1.3-3.6)]. Girls and women with CAH have an increased risk of psychiatric disorders in general and substance use disorders in particular compared with unexposed females, with the highest risk among those with the most severe genotype. Prenatal androgen exposure and deficient endogenous cortisol and/or adrenaline production may provide explanations for these findings, but other factors related to CAH cannot be excluded., (Copyright © 2015 Elsevier Ltd. All rights reserved.)