Long-term quality of life and surgical outcome of female congenital adrenal hyperplasia patients

Aim: To investigate the long-term quality of life and surgical outcome of female patients with congenital adrenal hyperplasia (CAH).

Methods: Questionnaires for health-related quality of life (HRQoL) outcome (WHO-5, SF-36), lower urinary tract symptoms (ICIQ-FLUTS) and sexual outcome (ICIQ-FLUTSsex) were administered to adult CAH patients. Paediatric CAH patients and their parents were invited to complete WHO-5, PedsQL-4.0-SF15-Generic Core Scales and ICIQ-CLUTS.

Results: Six (46%) adults and 7 (54%) children with 21-hydroxylase-deficiency (age ranged from 8 years to 53 years) were recruited. Eleven (85%) had undergone a feminising genitoplasty. In the adult group, no statistically significant difference was identified in the HRQoL and ICIQ-FLUTS scores. Mean overall score of ICIQ-FLUTSsex was lower but not significantly in adult patients compared to controls (7.3 ± 2.9 vs. 2.9 ± 3.4, P = 0.06). A statistically significant negative correlation (r = -0.98, P = 0.02) was found between age at first operation and role limitations due to emotional problems in SF-36. No statistically significant difference was identified in the self-reported HRQoL and ICIQ-CLUTS scores in the paediatric group compared to controls. However, parent's report showed a statistically significant difference in school functioning (73.8 ± 18.9 vs. 91.2 ± 18.7, P = 0.02) and emotional functioning (80.3 ± 15.9 vs. 94.7 ± 12.7, P = 0.007).

Conclusions: Our data did not show an impaired HRQoL nor long-term lower urinary tract symptoms in CAH patients' self-reports. Healthcare team should pay more attention to adult patient's sexual function.