Impaired cognitive function in women with congenital adrenal hyperplasia.

CONTEXT: Congenital adrenal hyperplasia (CAH) is a disorder with a wide spectrum of severity. OBJECTIVE: The objective of this study was to investigate cognitive function in CAH women. DESIGN: This was a case-control study. SETTING: This study was conducted at a tertiary center for pediatric endocrinology at the University Hospital of Copenhagen. PARTICIPANTS: Thirty-five Danish CAH women (age 17-51 yr) were included, and participation rate was 84%. Control women were recruited through the Danish Civil Registration System and matched on age and education. MAIN OUTCOME MEASURES: An abbreviated form of the Wechsler Adult Intelligence Scale was used, i.e. full-scale intelligence quotient (IQ; five of 11 subtests), which included three of six verbal IQ subtests and two of five performance IQ subtests. RESULTS: A significantly lower IQ was found in CAH patients compared with controls with respect to mean full-scale IQ (84.5 vs. 99.1; P < 0.001), mean verbal IQ (86.6 vs. 97.3; P < 0.001), and mean performance IQ (85.7 vs. 101.3; P < 0.001). The salt-wasting CAH group had lower IQ scores than the simple-virilizing CAH group, which reached significance for mean total IQ (81.2 vs. 92.8, P = 0.04) and mean verbal IQ (84.7 vs. 95.5, P = 0.05), and additionally, lower scores than the late-onset CAH group, which reached significance for performance IQ (mean 81.5 vs. 96.2, P = 0.02). CONCLUSIONS: Impaired cognitive function was observed in patients with CAH, especially in salt-wasting CAH. These intriguing findings may reflect adverse effects of hyponatremic episodes, suboptimal postnatal hormone replacement therapy or prenatal adrenal androgen excess, and the potential psychosocial consequences of the disorder.

Quality of life in 70 women with disorders of sex development.

OBJECTIVE: The aim of this study was to assess the quality of life and psychosocial well-being in women with disorders of sex development (DSD). DESIGN: An open case-control study. METHODS: Social and psychiatric information was collected via a structured interview from 70 Danish women diagnosed with DSD, 70 controls matched on sex, age, and school education, and six women with isolated genital malformations. Quality of life and mental distress were assessed by 'Quality of Life-Assessment of Growth Hormone Deficiency in Adults' (QoL-AGHDA) and three symptom scales from the 'Hopkins Symptom Checklist' (SCL-90-R; i.e. somatization, depression, and anxiety) respectively. For both measures, higher scores reflected poorer outcomes. RESULTS: Present relationships and having children were less frequent in patients than in controls (P = 0.02 and P < 0.001 respectively). Previous suicidal thoughts (P = 0.002) and a higher frequency of psychological/psychiatric counseling for severe problems (P = 0.06) were more frequently reported in patients than in controls. The mean QoL-AGHDA score was significantly higher in patients than in controls (5.5 vs 2.9; P = 0.002), especially for congenital adrenal hyperplasia (CAH) females (P = 0.01) and virilized 46,XX and 46,XY females (P = 0.04). The total SCL score was higher in patients than in controls (mean 23.2 vs 20.0), reaching significance for anxiety (mean 6.3 vs 4.3, P = 0.03) with highest score in CAH (P = 0.01). CONCLUSION: An impaired quality of life and more affective distress were observed especially in CAH patients and virilized 46,XX and 46,XY females. This may be caused by trauma from distressing diagnostic procedures, the chronic illnesses per se, and psychosocial consequences of the disorders.