Psychosexual development and quality of life outcomes in females with congenital adrenal hyperplasia

BACKGROUND/AIMS: Outcome information regarding females with classical congenital adrenal hyperplasia (CAH) have generally suggested poor quality of life (QoL), general maladjustment, problems regarding sexuality, and decreased fertility. The aim of this study was to assess QoL, psychosocial adaptation, and psychosexual characteristics, includingchildhood gender role behavior, gender identity, and sexual orientation in females with CAH. METHODS: Female patients with 21-hydroxylase deficiency CAH were evaluated using a questionnaire with items relating to knowledge of their condition and its therapy; consistency of medical, surgical, and psychological care; childhood friends and play behavior; and genital, pubertal, and sexual development. The subjects’ perception of outcome was compared with family support and adolescent and adult QoL perspectives, including social relationships, self and body image, and gender and sexual issues. RESULTS: Childhood play and gender characteristics, childhood and adult genital perception, and sexual identity and orientation varied as previously reported. However, most patients indicated good family support, understanding of their condition, good quality medical care, positive self-satisfaction, indices of happiness and body image perception, and satisfaction with their sex lives. CONCLUSION: The data reported here suggest that overall outcome can be very good for females with CAH and that good outcome appears to relate to quality of care and positive social support. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13633-015-0017-z) contains supplementary material, which is available to authorized users.