Improvement of health-related quality of life in adult women with 21-hydroxylase deficiency over a seven-year period.
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.  It is not known if HRQoL can be improved in adult 21-OHD patients.  We performed a longitudinal, prospective, single centre, follow-up study over seven years including 15 adult female 21-OHD patients.  Two standardized questionnaires (Short Form 12 (SF-12); 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 data sets from respective normative groups.  Data regarding glucocorticoid therapy, clinical and hormonal parameters were assessed.  We found that two of eight scales of 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.  No changes in BMI were observed over the study period.  We conclude that improvement of HRQoL in adult female 21-OHD patients is possible.  Several factors might be involved in this improvement including reduced daily hydrocortisone equivalent dose per body surface.
Department of Clinical Endocrinology, Charité Campus Mitte, Charité University Medicine Berlin, Germany.
Benjamin
B
Bleicken
Manfred
M
Ventz
Andreas
A
Hinz
Marcus
M
Quinkler
D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy*; D000328:Adult; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D005500:Follow-Up Studies; D005938:Glucocorticoids / Q000008:administration & dosage / Q000009:adverse effects; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use*; D008137:Longitudinal Studies; D008875:Middle Aged; D011239:Prednisolone / Q000627:therapeutic use; D011788:Quality of Life; D011795:Surveys and Questionnaires
D005938:Glucocorticoids; D003907:Dexamethasone; D011239:Prednisolone; D006854:Hydrocortisone