Complexities of Care in Klinefelter Syndrome: An APRN Perspective

Abstract

47,XXY (Klinefelter Syndrome) is associated with a spectrum of complex clinical needs that are associated with variable physical, neurocognitive and psychosocial aspects. For patients and families affected by this sex chromosome trisomy, navigation of health care services is difficult due to lack of 47,XXY awareness among many health care providers and little evidence to support endocrine and additional treatment plans. While endocrine management of androgen deficiency has been the mainstay of treatment for patients from puberty through adulthood, testosterone replacement, alone, fails to mitigate many symptoms and issues. Prior to the onset of puberty, boys with 47,XXY often do not receive interdisciplinary evaluations and treatment. Since multiple health and ancillary therapeutic services are required for the management of 47,XXY, patients and families often experience disjointed and uncoordinated care. We discuss complexities of caring for patients with 47,XXY and the benefit of integrating advanced practice nursing and medical perspectives to improve care delivery.

Keywords: Klinefelter Syndrome; Sex Chromosome Variation; XXY.