In a double-blind, double-matched population survey, the tremor of 12 XYY, 14 XXY, and 52 XY men were studied clinically and by a special tremor recording equipment. XYY men were found to have a more pronounced tremor than XY normals, while XXY men were not found to differ in any definite way from normal XY men.
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http://dx.doi.org/10.1111/j.1600-0404.1978.tb02861.x | DOI Listing |
ACR Open Rheumatol
January 2025
Sidney Kimmel Medical College at Thomas Jefferson University and Jefferson Einstein Hospital, Philadelphia, Pennsylvania.
Objective: Systemic lupus erythematosus (SLE) and Sjögren disease (SjD) are autoimmune diseases with significant female predominance. The prevalence of SLE is increased in Klinefelter syndrome (KS) compared with the general male population. Our study investigates the dose effects of extra X chromosomes on the development of SLE and SjD in KS and triple X syndrome compared with the general population.
View Article and Find Full Text PDFBiol Sex Differ
December 2024
Department of Internal Medicine, Pulmonary, Critical Care, and Sleep Medicine, Rush University Medical Center, Chicago, IL, 60612, USA.
In humans, the X and Y chromosomes determine the biological sex, XX specifying for females and XY for males. The long noncoding RNA X-inactive specific transcript (lncRNA XIST) plays a crucial role in the process of X chromosome inactivation (XCI) in cells of the female, a process that ensures the balanced expression of X-linked genes between sexes. Initially, it was believed that XIST can be expressed only from the inactive X chromosome (Xi) and is considered a typically female-specific transcript.
View Article and Find Full Text PDFBiol Sex Differ
October 2024
iBB - Institute for Bioengineering and Biosciences, Department of Bioengineering, Instituto Superior Técnico, Universidade de Lisboa, Lisbon, Portugal.
Systemic lupus erythematosus (SLE or lupus) is an immune-mediated disease associated with substantial medical burden. Notably, lupus exhibits a striking female bias, with women having significantly higher susceptibility compared to men, up to 14-fold higher in some ethnicities. Supernumerary X chromosome syndromes, like Klinefelter (XXY) and Triple X syndrome (XXX), also present higher SLE prevalence, whereas Turner syndrome (XO) displays lower prevalence.
View Article and Find Full Text PDFNeuroimage Clin
November 2024
Section for Clinical Psychology, Department of Psychology, University of Oslo, Oslo, Norway; Frambu Resource Centre for Rare Disorders, Siggerud, Norway.
Deficits in several cognitive domains are prevalent in men with Klinefelter Syndrome (KS). Verbal deficits are among the most characteristic cognitive impairments of KS, yet other cognitive domains also exhibit deficits. Executive functions, especially working memory capacity and inhibitory control, are frequently affected as well.
View Article and Find Full Text PDFClin Chim Acta
January 2025
NHC Key Laboratory of Male Reproduction and Genetics, Guangdong Provincial Reproductive Science Institute (Guangdong Provincial Fertility Hospital), Guangzhou 510060, China; School of Medicine, Jinan University, Guangzhou 510632, China. Electronic address:
Objective: This study aimed to investigate the genetic etiology of male infertility patients.
Method: A total of 1600 male patients with infertility, including 1300 cases of azoospermia and 300 cases of severe oligozoospermia, underwent routine semen analysis, chromosomal karyotype analysis and sex hormone level testing. The Azoospermia factor (AZF) on the Y chromosome was detected using the multiple fluorescence quantitative PCR technique.
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