Endocrine Abstracts

Introduction: Health related quality of life (HRQoL) is impaired in adult patients with 21-hydroxylase deficiency (21-OHD). Up to now, only cross-sectional and no longitudinal studies are available, and it is not known if HRQoL can be improved in adult 21-OHD patients. Objective: To investigate HRQoL in adult female 21-OHD patients over a longer time span.

Methods: Longitudinal, single centre, follow-up study over seven years with three visits including 15 adult female 21-OHD patients. Two standardized questionnaires, Short Form 12 (SF-12) and Hospital Anxiety and Depression Scale (HADS), were completed in 2003, 2006 and 2010. Adjustment for age and sex was performed by transformation of score values into age- and sex-adjusted Z-scores using complete data sets from respective normative groups. Data regarding glucocorticoid therapy, clinical and hormonal parameters were assessed.

Results: Two of eight scales of the SF-12 showed a significant improvement and four of eight scales a positive trend to better scores. No significant changes were seen in scores for HADS or for steroid hormone levels. Daily hydrocortisone equivalent dose per body surface significantly decreased over the study period, and the dexamethasone dose was significantly lower at the end of the study period. No changes in BMI were observed over the study period.

Conclusions: Improvement of HRQoL in adult female 21-OHD patients is possible in a reasonable time span. Several factors might be involved in this improvement including reduced daily hydrocortisone equivalent dose per body surface.

Declaration of interest: There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Funding: No specific grant from any funding agency in the public, commercial or not-for-profit sector.