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Clin Endocrinol (Oxf). 2011 Feb;74(2):166-73. doi: 10.1111/j.1365-2265.2010.03920.x.

Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency.

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Centre for Endocrinology, Diabetes and Metabolism, School of Clinical & Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.



Current replacement regimens fail to restore well-being in patients with primary adrenal insufficiency (PAI). Data on health-related quality of life (HRQoL) in patients with congenital adrenal hyperplasia (CAH) are scarce, inconsistent and largely restricted to women. The objective of the study therefore was to study HRQoL in CAH because of 21-hydroxylase deficiency in comparison with PAI and healthy controls.


In a cross-sectional study, 81 German CAH patients from two tertiary care centres (45 women, 36 men; 71 classical, 10 nonclassical, age 18-65 years) completed three validated self-assessment questionnaires [Short Form-36 (SF-36), Giessen Subjective Complaints List (GBB-24), Hospital Anxiety and Depression Scale (HADS)]. Results were compared to sex- and age-matched controls from questionnaire-specific German reference cohorts and German PAI patients.


Congenital adrenal hyperplasia patients had impaired HRQoL in three of five GBB-24 scores whereas SF-36 and HADS scores did not differ from controls. PAI patients showed impairment in more dimensions of the applied tests and, in women, significantly worse scores in several dimensions compared to CAH patients (physical functioning, vitality, social functioning, mental health dimensions of the SF-36, P<0·05 and HADS anxiety score, P<0·05).


HRQoL in CAH is only mildly impaired and significantly less than in PAI patients. Differences between PAI and CAH in HRQoL suggest relevant modulating factors of HRQoL other than hormone replacement therapy itself.

[Indexed for MEDLINE]

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