Long-term urinary symptoms in adolescent and adult women with congenital adrenal hyperplasia

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition resulting in excess androgen production. Females are typically born with ambiguous genitalia and often undergo feminising genitoplasty in infancy or childhood. Recently, there has been considerable international debate as to whether distressing urinary symptoms in CAH patients are truly present and, if so, whether these urinary problems are a consequence of the feminising genitoplasty. To identify and assess any urinary symptoms in an Australian cohort of adolescent and adult women with CAH who have undergone feminising genitoplasty in infancy, childhood or adolescence as a part of their management. Females with CAH aged 12-40 years, who had undergone feminising genitoplasty, and were identified from a hospital database (n=72). Those aged 12-15 years were assessed using the Paediatric Incontinence Symptom Index questionnaire in conjunction with sections of the Bristol Female Lower Urinary Tract Symptoms Scored Form questionnaire. Those aged 16-40 years were assessed using the Bristol Female Lower Urinary Tract Symptoms Scored Form questionnaire. Uroflowmetry studies and post-void residual volume ultrasounds were also conducted. Previously published normative data were used for the control population. Responses to the questionnaire indicated that CAH patients had a higher incidence of urgency, frequency, urge incontinence, unexplained incontinence and nocturnal incontinence, when compared to previously published control data. Average and maximum urine flow rates measured by uroflowmetry were within normal range; however, the 16-40-year-old age group had significantly increased mean post-void residual volumes (P<0.001) (Summary table). The presence of lower urinary tract symptoms in these patients has previously been interpreted as a direct outcome of feminising genitoplasty; however, these results could also be accounted for by the virilisation of pelvic floor musculature. Androgens have been shown to increase skeletal muscle mass, but their exact impact on the pelvic floor musculature requires further research. Three previous studies have measured post-void residual volumes in patients with CAH, all of which found it them be raised. Patients with CAH appeared to have overall normal urinary flow but increased post-void residual volumes. The data suggested that this population of patients has an increased probability of incontinence, urgency, and frequency when compared to a control population. These results confirmed findings of other small studies; however, it remains unclear if these changes reflected the underlying diagnosis or were a consequence of management.