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Recommendations for diagnosis and treatment of the aging male with Klinefelter syndrome

Michael Zitzmann, Andrea Sansone, Emmanuele A. Jannini, Hugh Jones, Alberto Ferlin, Bruno Lunenfeld

2025The Aging Male13 citationsDOIOpen Access PDF

Abstract

This is the inaugural recommendation for the management of the Aging Male with Klinefelter Syndrome (KS), a demographic characterized by primary hypogonadism in the presence of one or more supernumerary X-chromosomes with irregular gene-inactivation, and metabolic dysregulation, contributing a component of functional hypogonadism as aging in these men progresses. The unique constellation of symptoms spanning multiple organ systems and health domains necessitates specialized diagnostic and therapeutic strategies. Neglecting the specific needs of this population can precipitate a considerable decline in quality of life and overall health outcomes. Our recommendations advocate for a multidisciplinary approach involving endocrinologists, urologists, geneticists, mental health professionals, and other specialists, to address the complex interplay of hormonal imbalances, metabolic disorders, cardiovascular risk factors including arrhythmia, bone health concerns, psychological and sexual challenges, ophthalmological problems, and dental issues. By providing a structured framework for comprehensive and individualized care, these recommendations aim to bridge existing healthcare gaps, optimize well-being, and enhance the overall quality of life for aging men with KS.

Topics & Concepts

MedicineQuality of life (healthcare)Klinefelter syndromePopulationMultidisciplinary approachPediatricsNursingEnvironmental healthSocial scienceSociologyGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersHormonal and reproductive studies
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