Endocrine Abstracts

Background/Aims: A paucity of condition-specific tools for assessment of health-related quality of life (HRQoL) in individuals with conditions affecting sex development (CSD) has led to the recent development of short, HRQoL instruments (PRO-CSD) for parents of children with CSD who are less than 7yrs old. These instruments can be used routinely and the aim of the current project was to explore their use in the clinic setting.

Methods: PRO-CSD instruments, a parent self-report (PSR) and parent-proxy report (PPR), were completed as part of routine clinical service by parents of 26 children (median age 4.2 years; range 0.1 to 6.9) with conditions affecting sex development, attending endocrine clinics over a 5-month period at a tertiary children’s hospital in Glasgow, UK. Parents were asked to complete questionnaires in the clinic waiting area prior to their appointment.

Results: Of the 38 eligible patients, 26 parents (69%), including 23 mothers, completed a PSR for 26 children aged <7yrs; a subset of these (n,17) also completed a PPR for children aged 2 to 7 years. Reasons for non-participation included: non-attendance (n,4), non-distribution (n,3), unknown reasons (n,3), not fluent in English language (n,1) and telephone appointment (n,1). Of the 43 completed questionnaires, 39 (91%) were completed pre-clinic. Of the 26 children, 18 (69%) were boys, with a median EMS of 9.5 (range 2-12); 9 boys (50%) had an EMS of >9. Eleven (61%) had bilateral undescended testes, 7 (39%) had proximal hypospadias. Nine boys (50%) had previous surgical intervention including hypospadias repair and orchidopexies and all parents had experienced stress at the time of surgery. Amongst the 8 girls, 4 (50%) had 21 hydroxylase deficiency congenital adrenal hyperplasia. Comparison of all PSR scale scores showed that greatest parental stress was experienced upon receiving their child’s diagnosis (P<0.05) and regarding future concerns (social problems, future relationships) (P <0.05).

Conclusions: PRO-CSD instruments may be used routinely for screening of health-related quality of life in conditions affecting sex development. Further studies in large, multicentre cohorts are required to determine potential associations between demographic and clinical features and rates of psychosocial distress.