47,XXY (Klinefelter)

Article Title: Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome

Authors: Shanlee Davis, MD; Susan Howell, MS, CGC, MBA; Rebecca Wilson, PsyDc; Tanea Tanda, BS; Judy Ross, MD; Philip Zeitler, MD, PhD; Nicole Tartaglia, MD, MS

Date of Publication: August 2016

“In summary, KS is a common but underdiagnosed genetic condition with significant phenotypic variability in childhood. The pediatrician needs to be aware of the increased risk for neurodevelopmental, psychological, and medical conditions that are associated with an additional X-chromosome. Over the next decade, we anticipate a sharp increase in diagnoses rates with advances in genetics, particularly prenatal and neonatal diagnoses. In the United States, more multidisciplinary clinics are being established to provide comprehensive care for children and adults with KS and other sex chromosome variations. More research is needed to further define the natural history of KS in infancy and childhood with these unbiased populations, as well as understand genetic and environmental contributors to phenotypic variability and determine best practice screening and management guidelines for boys with KS.”

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Article Title: The Klinefelter syndrome: current management and research challenges

Authors: E. Nieschlag, A. Ferlin, C. H. Gravholt, J. Gromoll, B. Kohler, H. Lejeune, A. D. Rogol and J. Wistuba

Date of Publication: April 1, 2016

“Following the 1st International Workshop on the Klinefelter Syndrome in 2010 (Juul et al., 2011), the 2nd IWKS took place in Munster, Germany from March 10 to 12, 2016 and was organized by the Centre of Reproductive Medicine and Andrology of the University of Munster. During the program, talks were presented by leading researchers in the field followed by lively discussions among the 120 participants.”

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Article Title: Testis Development and Reproductive Options in Males with Klinefelter Syndrome

Authors: Shanlee M. Davis, MD; Alan D. Rogol, MD, PhD; Judith L. Ross, MD

Date of Publication: September 28, 2015

“Klinefelter syndrome (KS) is the leading genetic cause of primary hypogonadism and infertility in men. The clinical phenotype has expanded beyond the original description of infertility, small testes and gynecomastia. Animal models, epidemiological studies, and clinical research of males with KS throughout the lifespan have allowed us to better characterize the variable phenotype of this condition. This review will provide an overview on what is known of the epidemiology, clinical features, and pathophysiology of KS, followed by a more focused discussion of testicular development and the clinical management of hypogonadism and fertility in men with KS.”

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