47,XXY (Klinefelter) Archives - Page 18 of 21 - The Association for X and Y Chromosome Variations

Genetic Evaluation of Male Infertility

Article Title: Genetic evaluation of male infertility

Author: Matthew S. Wosnitzer

Date of Publication: March 2014

“Men with severe oligospermia (<5 million sperm/mL ejaculate fluid) or azoospermia should receive genetic testing to clarify etiology of male infertility prior to treatment. Categorization by obstructive azoospermia (OA) or non-obstructive azoospermia (NOA) is critical since genetic testing differs for the former with normal testicular function, testicular volume (~20 mL), and follicle-stimulating hormone (FSH) (1-8 IU/mL) when compared to the latter with small, soft testes and increased FSH.”

Rick Frith2020-03-16T12:54:09-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Medical Treatment of Male Infertility

Article Title: Medical treatment of male infertility

Authors: Ali A. Dabaja, Peter N. Schlegel

Date of Publication: March 2014

“The majority of male infertility is idiopathic. However, there are multiple known causes of male infertility, and some of these causes can be treated medically with high success rates. In cases of idiopathic or genetic causes of male infertility, medical management is typically empirical; in most instances medical therapy represents off-label use that is not specifically approved by the FDA. Understanding the hypothalamic-pituitary-gonadal (HPG) axis and the effect of estrogen excess is critical for the assessment and treatment of male infertility.”

Rick Frith2020-03-16T12:56:36-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Surgical Management of Male Infertility: An Update

Article Title: Surgical management of male infertility: an update

Authors: Monica Velasquez, Cigdem Tanrikut

Date of Publication: March 2014

“Male factor infertility is common, affecting 7% of the total population and up to half of couples who are trying to conceive. Various surgical and reconstructive options allow biological paternity depending on the etiology of the male factor issues. This article describes historical treatments and newer approaches, discussing the role for traditional open surgery, microsurgery and robotic surgery, as well as interventional radiologic procedures in the management of male infertility.”

Rick Frith2020-03-16T12:55:49-04:00Categories: 47,XXY (Klinefelter)|Tags: Fertility|

Neural systems for social cognition in Klinefelter syndrome (47,XXY)

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.”

Rick Frith2018-08-05T14:20:34-04:00Categories: 47,XXY (Klinefelter)|

Hypogonadism in the Aging Male Diagnosis, Potential Benefits, and Risks of Testosterone Replacement Therapy

Article Title: Hypogonadism in the Aging Male Diagnosis, Potential Benefits, and Risks of Testosterone Replacement Therapy

Authors: Prasanth N. Surampudi, Christina Wang, and Ronald Swerdloff

Date of Publication: December 2011

“Hypogonadism in older men is a syndrome characterized by low serum testosterone levels and clinical symptoms often seen in hypogonadal men of younger age. These symptoms include decreased libido, erectile dysfunction, decreased vitality, decreased muscle mass, increased adiposity, depressed mood, osteopenia, and osteoporosis. Hypogonadism is a common disorder in aging men with a significant percentage of men over 60 years of age having serum testosterone levels below the lower limits of young male adults.”

Rick Frith2022-02-16T12:52:30-05:00Categories: 47,XXY (Klinefelter)|Tags: Testosterone treatment|

Klinefelter Syndrome – A Clinical Update

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.”

Rick Frith2018-09-05T14:26:29-04:00Categories: 47,XXY (Klinefelter)|

Putting the ‘T’rouble in Testosterone Therapy?

Article Title: Putting the ‘T’rouble in Testosterone Therapy?

Author: Charles P. Vega, MD

Date of Publication: January 30, 2014

“Four in 5 men may have symptoms of testosterone deficiency, and testosterone replacement can improve body composition and metabolic outcomes related to serum glucose and cholesterol levels. In fact, some research even suggests that testosterone treatment might improve the risk for mortality among men with testosterone deficiency. However, a large new study finds a higher risk for cardiovascular disease or death associated with testosterone therapy, and it is not the first study to do so. The current review provides a balanced perspective regarding the challenging issue of testosterone deficiency and replacement among men.”

Read more (access to full article requires free Medscape registration)

Rick Frith2022-03-10T09:41:53-05:00Categories: 47,XXY (Klinefelter)|Tags: Testosterone treatment|

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

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.”

Rick Frith2018-08-12T13:00:27-04:00Categories: 47,XXY (Klinefelter)|

Clinical research: Extra X impairs awareness of others’ minds

Article Title: Clinical research: Extra X impairs awareness of others’ minds

Author: Kate Yandell

Date of Publication: June 13, 2014

“Girls and boys born with an extra X chromosome both tend to have difficulties understanding the minds of others, but for different reasons than children with autism do, according to a study published 22 March in Genes, Brain and Behavior” (Sophie van Rijn et al).

Rick Frith2018-08-12T13:11:54-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 48,XXYY, Other Variations|

Feminized Behavior and Brain Gene Expression in a Novel Mouse Model of Klinefelter Syndrome

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.”

Rick Frith2018-08-12T13:26:27-04:00Categories: 47,XXY (Klinefelter)|