ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Pediatr Endocrinol Metab 2020; 33(2): 295–304. doi: 10.1515/jpem-2019-0345

• Using the validated World Health Organization QOL-BREF questionnaire that independently assesses the physical, psychological, social and environmental domains, the authors assessed health-related QOL in 200 Egyptian children and adolescents with CAH.• Older patients had significantly lower QOL scores (r =−0.151, P =0.033). The physical domain correlated significantly with the degree of virilisation (r =−0.491, P =0.001) and frequency of hospitalization (r =−0.495, P <0.001). The psychological domain was affected by age (r =−0.157, P =0.026) and timing of genitoplasty (r =−0.326, P =0.001), while the social domain was affected by age (r =−0.277, P <0.005) and pubertal stage (r =−0.195, P =0.006). Salt wasting patients had lower scores at the physical domain (P =0.001).• Health-related QOL worsened with older age, poor hormonal control and high frequency of hospital admissions.

This cross-sectional study included 140 females and 60 males with CAH due to 21-hydroxylase deficiency (mean age 6.6±4.5 years). The WHO questionnaire (WHOQOL-BREF) used by the authors assesses four main domains: physical health (i.e. activities of daily living, dependence on medicines, energy, mobility, pain), psychological health (i.e. body image, negative and positive feelings, self-esteem, learning), social relationships (i.e. social support) and environment (i.e. financial resources, freedom, physical safety, home and physical environments, leisure activities). Overall, children and adolescents with CAH were found to have a lower QOL compared to a general population. Although there was no control group in this study, the version of the WHOQOL-BREF in Arabic was found to have excellent reliability and validity. Females had lower scores at the psychological domain, whereas males had lower scores at the physical domain. Several aspects of this interesting article deserve comments. First, 77/137 neonates originally assigned to the male sex were later reassigned to the female sex after confirmation of the diagnosis. Although the age at which reassignment was performed is not provided, final diagnosis was obtained at a median age of 4 days, but as late as 10 years. While the questionnaire was administered only to the children (with the help of the parents when needed), it would be interesting to understand the impact of sex reassignment on the parents themselves. Second, in this Egyptian study, clitoroplasty was performed at a young age. The younger the age, the better the psychological component of the QOL. An Arab colleague helped me put this article in the context of her culture. She explained to me the influence of social norms on the timing of the decision of the surgery. Some will argue that surgery should be delayed until the child can make the decision herself. In Egypt (where 85–90% of the population is Muslim), it is important that cosmetic normalization be performed as early as possible regardless of a medical indication. Indeed, in most Arab societies, genital ambiguity affects the family social well-being, sexuality is not openly discussed (and a question about sexual pleasure was removed from the questionnaire), homosexuality is not recognized, assisted reproduction options are limited (in vitro fertilization and intrauterine insemination between the spouses are permitted but egg and sperm donation from unrelated donors are not) and women who are unmarried or do not conceive face many social issues. Many of the female patients included in this study were very young, and it would be important to reassess the QOL when they become adults to understand the long term effects of CAH, which can adversely affect fertility and sexual function. This article serves as a reminder that guidelines for the management of CAH need to consider the culture and religion of each population.