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Klinefelter Syndrome - Crossref

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Last Updated: 11 June 2022

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Assisted reproduction in patients with Klinefelter syndrome

"Objective: The aim of this article is to share the latest information about Klinefelter syndrome and its effects on male reproductive health as well as the current treatment options. " Text in Klinefelter syndrome is a chromosomal anomaly in males with an extra X chromosome. Conclusion: Patients with Klinefelter syndrome can be identified and treated early with an interdisciplinary approach. For fertility therapy in patients with Klinefelter syndrome, assisted reproductive technology is crucial.

Source link: https://doi.org/10.48095/cccg2022133


Conventional and Molecular Cytogenetic Identification of a Variant Klinefelter Syndrome Patient with a Deleted X Chromosome

"We provide information on the case of a 34-year-old patient with the Klinefelter syndrome and unexpected cytogenetic finding of a deletion involving the short arm of the X chromosome. This was detected with fluorescent in situ hybridization using an X chromosome-specific whole chromosome painting probe. Infertility was present in the patient. The mild phenotype found in our patient was found to be similar to both conventional and molecular cytogenetic tests. ".

Source link: https://doi.org/10.1159/000028052


Association Between Domains of Quality of Life and Patients with Klinefelter Syndrome: A Systematic Review.

"Research indicates that men with KS have reduced Quality of Life," concludes, although studies into KS diagnosis is limited, but studies into how the diagnosis of KS is linked to various QoL domains and what influences patients' u2019 QoL are limited. " This paper was intended to provide a systematic review of the published findings on factors that influence QoL in men with KS. According to one of 13 studies, KS negatively affected QoL results and KS, as well as impairments in physical, psychological, level identity, and social relationship domains of WHOQOL-100. According to a meta-analysis, men with KS have a significant lower full-scale Intelligence Quotient relative to controls, which is significantly lower compared to controls. CONCLUSIONS: This is the first concrete evidence synthesis of QoL in men with KS. According to current reports, combined physical and mental impairments impact men with KS who also suffer from social and economic challenges, as well as culture's inability. Further investigation is required to determine the reasons that influence QoL in men with KS. ".

Source link: https://doi.org/10.1530/eje-21-1239


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

"Abstract Background Klinefelter syndrome is alarmingly underdiagnosed," says the author. Object In a large Italian population, we'll discuss a KS clinical presentation. This is the first observational cohort study within a national network, the Klinefelter ItaliaN Group. The LH and FSH were increased, and mean total testosterone was 350 ng/dl at 35 u00b1 9. 1 ng/dl. 329 KS patients were evaluated in Northern Italy, 76 in Central and 204 in Southern Italy, according to a descriptive review. Just 16% of KS patients were diagnosed with a disease, compared to the expected number among male patients matched for age in Italy. These results are the findings of the only national database that gathers the clinical and hormonal records of the KS patients, who are now being referred to the KING centers. The typical KS patient in Italy is overweight, with small blood tests, elevated LH and FSH, and elevated LH and FSH. ".

Source link: https://doi.org/10.1007/s40618-022-01816-4


Providing information on Klinefelter syndrome

"The aim of this report was to compare the evidence that midwives, obstetricians, and geneticists have reported to expectant parents following the prenatal diagnosis of Klinefelter syndrome. " Following the prenatal diagnosis of Klinefelter syndrome, fifty midwives, 135 abortion specialists, and 66 geneticists completed a short questionnaire assessing the facts they reported to parents following a brief questionnaire. Parents' responses after the prenatal diagnosis of Klinefelter syndrome may differ depending on the health professions consulting.

Source link: https://doi.org/10.12968/bjom.2003.11.3.11127


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

The most common sex chromosomal aneuploidy in males is "Klinefelter syndrome. " Patients with this syndrome have elevated mortality and morbidity in comparison to the general population due to cardiovascular disease and endocrine metabolism abnormalities. It's well known that patients with this syndrome have increased mortality and morbidity than those with normal cardiac disease and obesity problems. Consequently, we present the most up-to-date information regarding metabolic and nutritional concerns in children with Klinefelter syndrome in this narrative review.

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


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 18, trisomy 21, and Klinefelter syndrome are associated with a greater risk of cancer development than euploid genomes. " However, the association between congenital aneuploidy per se and tumor initiation and/or progression is not well understood. To characterize the leukemic blasts of a three-year-old boy with KS and B-cell acute lymphoblastic leukemia, we used G-banding analysis, array comparative genomic hybridization study, and quantitative fluorescence in situ hybridization for telomere length analysis to detail genetic mutations in congenital aneuploidy and leukemic leukemia. In leukemic blasts, we found chromosomal instability and a significant decrease in telomere length, as compared to non-leukemic aneuploid cells. "B-ALL diagnostic cytogenetics" has 20 new cases in KS and B-ALL, according to the authors.

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


Exceptional Association Between Klinefelter Syndrome and Growth Hormone Deficiency

"GH deficiency was identified and confirmed by two simple experiments using normal hypothalamic magnetic resonance imaging," said the author. GH supplementation using recombinant GH was promoted, but gonadotropin therapy was postponed. "Any small number of children or adolescents should not exclude the diagnosis of Klinefelter syndrome (u2014), on the contrary, the presence of any similar sign should encourage one to seek a karyotype for the diagnosis and appropriate treatment of any case of KS that may be related to GH deficiency or in a variant form. ".

Source link: https://doi.org/10.4103/2041-9414.165531


Beta Thalassemia and Klinefelter syndrome: a rare occurrence

"Abstract Background "Abstract Background The Xometry of Haemoglobin is an inherited haematological blood disorder in the HBB gene, and mutations in this HBB gene contribute to the absence/deficiency of the Beta chain synthesis of haemoglobin, which leads to severe anaemia. " Klinefelter syndrome is a chromosomal abnormality that affects males' physical and cognitive growth. Because of delayed puberty and short stature, we show a boy with u03b2-Thalassemia major who was referred to chromosomal analysis. On the Y chromosome, the GTG banding for chromosomal analysis and standard PCR for variant detection of HBB gene, Bi-directional Sanger sequencing of the PCR products and multiplex PCR for variant detection of the AZF a, b, and c regions were carried out. Conclusion This is the second instance of a patient with u03b2-Thalassemia related to Klinefelter syndrome in our experience, but it is a unusual occurrence with a short-stature phenotype association rather than tall stature.

Source link: https://doi.org/10.1186/s43042-022-00300-1


A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation

This male patient was 3 years and 3 months old at the time of genetic testing, and in addition a mosaicism mos 47,XY[47]/46,XY[/23]. The boy's AVSD and the clubfoot were surgically repaired. Klinefelter syndrome is one of the most common congenital chromosomal abnormalities, but it is most common in puberty or adulthood when reproductive decline occurs. Delays in the 10q23. 2q23. 2 area are rare, and only a few cases of cases were reported with this microdeletion before, but none of them were associated with Klinefelter syndrome and it could be related to our case medical symptoms. "We hoped to improve the phenotype resulting from the rare coexistence of this deletion with Klinefelter syndrome by presenting this case.

Source link: https://doi.org/10.1159/000519965

* 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