47,XXY (Klinefelter)

Article Title: Neural systems for social cognition in Klinefelter syndrome (47,XXY): evidence from fMRI

Authors: Sophie van Rijn, Hanna Swaab, Daan Baas, Edward de Haan, René S. Kahn, and André Aleman

Date of Publication: July 6, 2011

“Klinefelter syndrome (KS) is a chromosomal condition (47, XXY) that may help us to unravel gene–brain behavior pathways to psychopathology. The phenotype includes social cognitive impairments and increased risk for autism traits. We used functional MRI to study neural mechanisms underlying social information processing. Eighteen nonclinical controls and thirteen men with XXY were scanned during judgments of faces with regard to trustworthiness and age.”

Read more

Article Title: Clinical review: Klinefelter syndrome – a clinical update

Authors: K.A. Groth, A. Skakkebæk, C. Høst, C.H. Gravholt, A. Bojesen

Date of Publication: November 1, 2012

“Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic discoveries.”

Read more

Article Title: Morbidity in Klinefelter Syndrome: A Danish Register Study Based on Hospital Discharge Diagnoses

Authors: Anders Bojesen, Svend Juul, Niels H. Birkebæk, and Claus H. Gravholt

Date of Publication: January 4, 2006

“Males suffering from KS experienced an increased hospitalization rate from a variety of disorders. Some are likely to be caused by hypogonadism, and some may be linked to the syndrome per se, whereas others are not readily explained. However, other factors, e.g. socioeconomic, may be involved.”

Read more

Article Title: Feminized behavior and brain gene expression in a novel mouse model of Klinefelter Syndrome

Authors: T.C. Ngun , N.M. Ghahramani, M.M. Creek, S.M. Williams-Burris, H. Barseghyan, Y. Itoh, F.J. Sánchez, R. McClusky, J.S. Sinsheimer, A.P. Arnold, E. Vilain

Date of Publication: June 13, 2014

“In some Klinefelter males, certain traits may be feminized or shifted from the male-typical pattern towards a more female-typical one…In sum, our results demonstrated that investigating behavioral and molecular feminization in XXY males can provide crucial information about the pathophysiology of KS and may aid our understanding of sex differences in brain and behavior.”

Read more

Article Title: A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

Authors: Elyssia Bourke, Pamela Snow, Amy Herlihy, David Amor and Sylvia Metcalfe

Date of Publication: May 22, 2013

“The conclusions from this study were that parents’ experiences of having a child with KS and receiving a diagnosis were complex and multifaceted. This experience was shaped by the timing of when the diagnosis was received, who provided the diagnosis, what information was provided from health-care professionals and that which parents may have encountered on the internet. The long-term experiences for parents were also impacted by the level of support they received. These findings have implications for the process by which KS is recognized by the health-care community and supports available for families.”

Read more

Article Title: What are the treatments for symptoms in Klinefelter syndrome (KS)?

Author: NIH

Date of Publication: December 1, 2016

“It’s important to remember that because symptoms can be mild, many males with KS are never diagnosed ore treated.

The earlier in life that KS symptoms are recognized and treated, the more likely it is that the symptoms can be reduced or eliminated. It is especially helpful to begin treatment by early puberty. Puberty is a time of rapid physical and psychological change, and treatment can successfully limit symptoms. However, treatment can bring benefits at any age.

The type of treatment needed depends on the type of symptoms being treated.”

Read more

Article Title: Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated

Author: Eberhard Nieschlag

Date of Publication: May 2013

“The diagnosis of KS would be less frequently missed if doctors were more aware of, and attentive to, its key manifestations, particularly the small, firm testes, erectile dysfunction, and the comorbidities mentioned above. If the diagnosis were made more often, patients would more often be able to receive early treatment, which would improve their quality of life.”

Read more