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

OBJECTIVE: 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. DESIGN/PATIENTS: 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. RESULTS: 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). CONCLUSIONS: 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.

High prevalence of reduced fecundity in men with congenital adrenal hyperplasia.

CONTEXT: Testicular adrenal rest tumors (TARTs) are regarded to contribute to the high prevalence of subfertility in males with congenital adrenal hyperplasia (CAH). OBJECTIVES: Our objectives were to evaluate reduced fecundity and its possible causes in well-controlled adult males with CAH, and to investigate diagnostic tools for improved treatment monitoring with respect to fertility outcomes. DESIGN: In a cross-sectional study at the Department of Endocrinology at the University Hospital München, Germany, 22 adult male CAH patients (15 salt wasting and seven simple virilizing, age 19-48 yr) were clinically assessed according to their hormonal control. We performed testicular ultrasound (22 of 22), magnetic resonance imaging (18 of 22), and a semen analysis (19 of 22) in the participants. RESULTS: All patients had a pathological semen analysis. TART prevalence was 10 of 22 (eight salt wasting, two simple virilizing). Poor therapy control was present in five patients, and all five had TARTs. Of the other 17 well-controlled patients with normal or suppressed adrenal androgens and 17-hydroxyprogesterone levels, five presented with TARTs. There was a significant correlation between sperm concentration and functional testicular volume (r = 0.70; P = 0.002), TART volume (r = -0.70; P = 0.036), as well as inhibin B levels (r = 0.75; P < 0.0001), respectively. In several men, hormonal control parameters suggested hypogonadism, with glucocorticoid overtreatment as a relevant factor for poor semen quality. CONCLUSIONS: Poor semen parameters are common in male CAH patients. TARTs, most likely reflecting undertreatment, as well as inhibin B are important indicators of fecundity. On the other hand, long-term glucocorticoid overtreatment also seems to contribute to low semen quality.