ArticleOrphanet journal of rare diseases2026
Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundPhenylketonuria (PKU) is a rare inherited metabolic disorder requiring lifelong treatment. While early diagnosis and dietary management have substantially improved neurocognitive outcomes, less is known about how PKU affects sexual life, intimate relationships, and reproductive decision-making, particularly during the transition to adulthood.
methodsThis cross-sectional study included 152 adolescents and young adults with PKU and 183 age-matched healthy controls. A questionnaire-based approach was used to assess sociodemographic characteristics, sexual behavior, and reproductive attitudes. Additional analyses within the PKU group examined sex- and age-related differences and factors associated with awareness of maternal PKU syndrome.
resultsIndividuals with PKU differed from controls primarily in psychosocial and reproductive domains rather than in sexual behavior itself. Participants with PKU were more likely to live with parents, less frequently sexually active, and less likely to have children, particularly men. Among sexually active individuals, no significant differences were observed between groups in age at sexual initiation, number of sexual partners, or condom use. Within the PKU cohort, women were more likely to be sexually active, to live independently, to have children, and to report that PKU influenced decisions related to sexual initiation and parenthood. Awareness of maternal PKU syndrome was uneven and strongly associated with female sex, older age, higher education, sexual activity, and parenthood, indicating substantial knowledge gaps among younger individuals and men.
conclusionsPKU appears to be associated with delayed psychosocial transitions and reduced parenthood rather than altered sexual behavior per se. Marked sex differences in reproductive attitudes and disease-related knowledge highlight an unequal distribution of reproductive responsibility. These findings underscore the need to integrate structured sexual and reproductive health education into lifelong care for individuals with PKU, particularly during adolescence and early adulthood.
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