47,XXX (Triple X syndrome) is a sex chromosome aneuploidy characterized by the presence of a supernumerary X chromosome in affected females and is associated with a variable cognitive, behavioral, and psychiatric phenotype. The effect of a supernumerary X chromosome in affected females on intracortical microstructure is currently unknown. Therefore, we conducted 7 Tesla structural MRI and compared T1 (ms), as a proxy for intracortical myelin (ICM), across laminae of 21 adult women with 47,XXX and 22 age-matched typically developing females using laminar analyses. Relationships between phenotypic traits and T1 values in 47,XXX were also investigated. Adults with 47,XXX showed higher bilateral T1 across supragranular laminae in the banks of the superior temporal sulcus, and in the right inferior temporal gyrus, suggesting decreases of ICM primarily within the temporal cortex in 47,XXX. Higher social functioning in 47,XXX was related to larger inferior temporal gyrus ICM content. Our findings indicate an effect of a supernumerary X chromosome in adult-aged women on ICM across supragranular laminae within the temporal cortex. These findings provide insight into the role of X chromosome dosage on ICM across laminae. Future research is warranted to further explore the functional significance of altered ICM across laminae in 47,XXX.
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http://dx.doi.org/10.1093/cercor/bhae343 | DOI Listing |
Clin Endocrinol (Oxf)
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Background: Klinefelter syndrome (KS) is an uncommonly recognised condition typified by gynaecomastia, small testes and aspermatogenesis. It is caused by a supernumerary X chromosome, resulting in a 47 XXY karyotype. Since its first description, the phenotype of KS has evolved and there is a much greater appreciation of the subtle features of the condition.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Down syndrome develops due to the presence of supernumerary chromosome 21. This diagnosis is made in approximately 1:800 live births. The tendency to develop autoimmune disorders like idiopathic arthritis, celiac disease, diabetes mellitus type 1, vitiligo and autoimmune thyroid disease is strongly expressed in patients with Down syndrome.
View Article and Find Full Text PDFDiagnostics (Basel)
November 2024
Endocrinology Department, Elias Emergency University Hospital, 011461 Bucharest, Romania.
: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.
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 PDFmedRxiv
November 2024
National Institutes of Health, National Institute of Mental Health, Bethesda, MD, United States.
Sex chromosome trisomies (SCTs) are a group of genetic disorders characterized by presence of a supernumerary sex chromosome, resulting in karyotypes other than XX or XY. These include XXX (Trisomy X), XXY (Klinefelter syndrome), and XYY (Jacobs syndrome). Sex chromosome trisomies have been linked to increased risk for psychopathology; however, this relationship warrants additional research.
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