Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway

Abstract

Background: Patients with classical congenital adrenal hyperplasia (CAH) require life-long corticosteroid therapy, with uncertain health outcome. Investigations of subjective health status in unselected populations of adult patients are needed. Objective: To identify all adult Norwegian patients with CAH and obtain population-based data on subjective and psychological health status, working ability and fertility. Patients, methods and design: Classical CAH patients were identified through search in electronic diagnosis registries at all the university hospitals in Norway. The diagnosis was verified by scrutiny of medical records. The patients were invited to a questionnaire survey including medical history, and the Short Form-36 (SF-36) and Quality of Life Scale questionnaires. The questionnaire responses and fertility data were compared with normative data. Results: We identified 104 adult patients (101 alive) with classical CAH (63% female), yielding overall incidence at 1/20 000 live births (1/16 000 in females). Seventy-two (72%) responded; median age 38 years (range 18-72). All the SF-36 scales were significantly impaired, most pronounced for general health and vitality perception. Working disability was reported by 19% of the patients, compared with 10% in the general population. The female patients were often single, and the CAH women had only 21% of the expected number of children compared with the general population. Conclusion: In this population-based survey of patients with classical CAH, we found that subjective health status and working ability were impaired, and that fertility was reduced in females. There is a need for improvement of the medical treatment and the general care of this patient group.

Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency

“…The glucocorticoid doses were also higher than the hydrocortisone doses of 15-25 mg/day suggested by the Endocrine Society (3). We previously reported that only 47% of the Norwegian patients use mineralocorticoid (17), which compared with 84% of the Swedish patients (32,33), which could contribute to the differences in both glucocorticoid doses and body composition. High blood pressure, including isolated diastolic hypertension, is, like fat mass, a marker of risk of cardiovascular disease (34).…”

“…The patients were categorised as SW or SV, as defined by medical history and laboratory assessment (17), and the diagnosis was verified by genotyping of the CYP21A2 gene. The patients were assessed at four University Hospitals, according to a standardised protocol including measurements of height, weight, waist and hip circumference; supine blood pressure measurements; dual X-ray absorptiometry (DXA) with BMD and body composition.…”

Utilization of Health Care Services and Satisfaction with Care in Adults Affected by Disorders of Sex Development (DSD)

“…The burden and effect of these conditions on daily life, aspirations, and adaptation to the situation may cause impairments in physical, emotional, and social wellbeing. 27,28 Whether participants received psychological counseling did not affect their satisfaction with care, but unmet needs did. Psychosocial interventions should be limited to those who need and want such services.…”

Improvement of health-related quality of life in adult women with 21-hydroxylase deficiency over a seven-year period

“…In a Norwegian population-based survey, the subjective health status of adult 21-OHD patients was also impaired [17]. In a German cross-sectional study, we recently found in 81 adult 21-OHD patients mild impairment in HRQoL compared to healthy controls and the 21-OHD patients had better scores in the questionnaires than PAI patients [16].…”

“…Current data on HRQoL in adult patients with 21-OHD shows conflicting results [11][12][13][14], however the most recent studies showed impaired HRQoL also in 21-OHD patients [15][16][17].…”