Advanced searches left 3/3

Klinefelter Syndrome - Europe PMC

Summarized by Plex Scholar
Last Updated: 11 June 2022

* If you want to update the article please login/register

KIF2C affects sperm cell differentiation in patients with Klinefelter syndrome, as revealed by RNA-Seq and scRNA-Seq data.

"We therefore used transcriptomic and single-cell RNA sequencing data from KS versus normal populations from the Gene Expression Omnibus database to identify gene biomarkers associated with the occurrence of KS. " Only KIF2C and RPS15 were expressed in spermatocytes and that they were differentially expressed in sperm cells, according to the validation of the single-cell sequencing results. The KIF2C gene in sperm cells' cellular differentiation and expansion of sperm cells was found to show upward trend throughout its differentiation and expression of sperm cells, according to further development of the sperm cells' development.

Source link: https://europepmc.org/article/MED/35622500


First baseline data of the Klinefelter ItaliaN Group (KING) cohort: clinical features of adult with Klinefelter syndrome in Italy.

"Background Klinefelter syndrome is frustratingly under-diagnosed. " OBJECTIVE: In a large Italian cohort, we report a KS clinical presentation. Primary research was intended to describe the basic clinical features and the actual phenotype of KS in Italy. Methods We undertook a basic phenotyping and analyzing of 609 adult KS patients' hormonal profiles. In both experiments in untreated KS group, the overall mean testicular size was 3 ml and 2. 5 ml. In Northern Italy, 76 in Central and 204 in Southern Italy, three29 KS patients were evaluated, according to a descriptive report. Only 16% of KS patients were diagnosed with a diagnosis, compared to the expected number of male patients matched for age in Italy. The typical KS patient in Italy is overweight, with small labs, and elevated LH and FSH. ".

Source link: https://europepmc.org/article/MED/35608733


Metabolic and Nutritional Aspects in Paediatric Patients with Klinefelter Syndrome: A Narrative Review.

Males have "Klinefelter syndrome" which is the most common sex chromosomal aneuploidy. Patients with this syndrome have elevated mortality and morbidity in comparison to the general population, thanks in cardiovascular diseases and endocrine metabolism abnormalities, which are well known. In this narrative review, we discuss the latest findings of metabolic and nutritional characteristics in children with Klinefelter syndrome.

Source link: https://europepmc.org/article/MED/35631248

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions