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Klinefelter Syndrome - DOAJ

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Last Updated: 11 June 2022

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

"Klinefelter syndrome" is the most common sex chromosomal aneuploidy in males. Patients with this syndrome have elevated mortality and morbidity in comparison to the general population due to cardiovascular disease and endocrine metabolism disorders. "In this narrative review, we discuss the latest findings of metabolic and dietary characteristics in children with Klinefelter syndrome. ".

Source link: https://doi.org/10.3390/nu14102107


An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature

"Klinefelter syndrome is the most common reported sex chromosome abnormality," researchers say. The majority of patients with Klinefelter syndrome have a 47,XXX genotype. If they have mosaicism, two distinct cell lines are often identified, an aneuploid 47,XXY cell line, and a typical male 46,XY cell line are often identified. With the addition female cell line 46,XX described in the literature, there are very few cases of 47,XX mosaicism. We describe a case of an adolescent with the male phenotype and a rare variant mosaic 47,XXX/46,XX karyotype, who had painful bilateral gynaecomastia. ".

Source link: https://doi.org/10.3390/genes13050744


Reduced fibrin clot lysis in Klinefelter syndrome associated with hypogonadism

"Objective: Klinefelter syndrome is a risk of thrombosis in children. " Hypogonadism and excess body fat in KS may have a potential effect on fibrinolysis. This report is a cross-sectional examination of males with KS and age-matched male controls. Methods: Fibrin clot lysis was evaluated by turbidity testing and by determining individual fibrinolytic proteins in plasma samples. By scanning electron microscopy, Fi brin clot structure was determined. A 42 percent decrease in fibrin clot lysis in men with KS, factor XIII, and plasminogen activator inhibitor type 1 were among the problems reported. Men with a KS had lower total testosterone and increased body fat, as well as higher body fat. Reduced fibrin clot lysability in men with KS was attributed to decreased total testosterone and hypogonadism in men with KS. The Fibrin clot system was not different from KS and controls, and it was not different from KS and controls. ".

Source link: https://doi.org/https://doi.org/10.1530/EC-21-0490


Congenital Aneuploidy in Klinefelter Syndrome with B-Cell Acute Lymphoblastic Leukemia Might Be Associated with Chromosomal Instability and Reduced Telomere Length

"Rare congenital aneuploid disorders such as trisomy 13, trisomy 18, trisomy 21, and Klinefelter syndrome have been correlated with increased risk of cancer in comparison to euploid genomes. " However, the relationship between congenital aneuploidy per se and tumor formation and/or progression is not well understood. To investigate gene expression factors in congenital aneuploidy and leukemia, we used G-banding analysis, array comparative genomic hybridization, and quantitative fluorescence in situ hybridization for telomere length analysis to characterize the leukemic blasts of a three-year-old boy with KS and B-cell acute lymphoblastic leukemia. B-ALL diagnostic cytogenetics reported 20 new cases in KS and B-ALL. According to the present results, congenital aneuploidy in B-ALL may be attributed to chromosomal instability, which may be exacerbated by increased telomere attrition. ".

Source link: https://doi.org/10.3390/cancers14092316


Primary seminoma of prostate in a patient with Klinefelter syndrome

"Klinefelter syndrome is a sex discrimination disorder that occurs in men and is characterized by the 47XXY genotype. " An association of KS and cancer has also been established. In the literature to date, there has been no evidence of seminoma of the prostate in KS. In the differential diagnosis of prostate neoplasms in patients with KS, primary seminoma should be included. On systemic examination, no other neoplasm was discovered; therefore, the patient was diagnosed with primary prostate seminoma and Klinefelter syndrome. In patients with KS patients with neoplasms of the prostate, the primary seminoma should be included in the differential diagnosis of prostate neoplasms. Transrectal ultrasound-guided prostate needle biopsy is critical for the diagnosis of prostate neoplasms, and cisplatin-based chemotherapy remains the primary treatment for seminoma. ".

Source link: https://doi.org/10.1097/MD.0000000000029117

* 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