(740) Exploring Sexuality and Sexual Health in Phenylketonuria (PKU): A Male Cohort Study

Introduction Sexual and reproductive health are fundamental human rights, yet they are often overlooked in chronic conditions like PKU. Existing tools such as PKU-QOL focus mainly on motherhood, ignoring broader aspects of sexuality. Emerging data suggest an association between PKU and elevated cardiovascular risk, with erectile dysfunction (ED) recognized as an early marker of cardiovascular disease. Additionally, elevated phenylalanine (Phe) may disrupt neurotransmitter balance and hormone levels. T Objective The aim of the present study was to explore sexual function and testosterone (TST) levels in adult males with PKU. Methods Participants: 20 adult males with PKU and 17 age-matched sexually active controls. Patients with IQ <70 (WAIS-IV) were excluded due to family concerns. Assessments: demographic data and clinical characteristics, early-morning blood tests including PRL, FSH, LH, Testosterone (total & free) and SHBG levels- Additionally all participants fulfilled the International Index of Erectile Function (IIEF) and the Sexual Well-being Questionnaire. Results The average age of participants was similar between groups: 33.9 years for those with PKU and 31.4 for controls (p=0.226). Interestingly, 35% of the PKU group expressed concern about how their condition might affect their sexual health, and 10% reported using phosphodiesterase type 5 inhibitors (PDE5-I). Over half of the PKU participants reported their first sexual experience before age 15, compared to 45% of controls (p=0.502). However, no significant group differences were observed in erectile function, orgasm, sexual desire, intercourse frequency, or overall satisfaction. Testosterone levels were likewise comparable (p = 0.553). Conclusions Sexual health emerges as a meaningful aspect of life for individuals with PKU, with over one-third expressing concern and a subset using erectile dysfunction treatments. These findings highlight the need to address sexuality as part of comprehensive PKU care, beyond dietary management and reproductive planning. Sexual well-being should be integrated into lifelong support strategies, especially for younger patients. Disclosure No