KIF2C affects sperm cell differentiation in patients with Klinefelter syndrome, as revealed by RNA‐Seq and scRNA‐Seq data
Sign Up to like & getrecommendations! Published in 2022 at "FEBS Open Bio"
DOI: 10.1002/2211-5463.13446
Abstract: Klinefelter syndrome (KS) is a leading contributor to male infertility and is characterised by complex and diverse clinical features; however, genetic changes in the KS transcriptome remain largely unknown. We therefore used transcriptomic and single‐cell… read more here.
Keywords: cell; scrna seq; seq; klinefelter syndrome ... See more keywords
Klinefelter Syndrome: What should we tell prospective parents?
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DOI: 10.1002/pd.6250
Abstract: Klinefelter syndrome (KS) or 47,XXY is the most common sex chromosome aneuploidy (SCA), occurring at a prevalence of 1 in 600 male pregnancies. Historically, only 25% of individuals with KS came to medical attention, for… read more here.
Keywords: klinefelter syndrome; prospective parents; syndrome tell; tell prospective ... See more keywords
Incidence of gynaecomastia in Klinefelter syndrome adolescents and outcome of testosterone treatment
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DOI: 10.1007/s00431-021-04083-2
Abstract: The aim was to define the true incidence of gynaecomastia in adolescent boys with Klinefelter syndrome (KS) and to observe testosterone treatment effects on its duration by examination of the prospectively collected data from a… read more here.
Keywords: klinefelter syndrome; incidence; treatment; testosterone ... See more keywords
ART strategies in Klinefelter syndrome
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DOI: 10.1007/s10815-020-01818-2
Abstract: Purpose Patients with Klinefelter syndrome (KS) who receive assisted reproductive technology (ART) treatment often experience poor pregnancy rates due to decreased fertilization, cleavage, and implantation rates and even an increased miscarriage rate. Mounting evidence from… read more here.
Keywords: klinefelter syndrome; art treatment; strategies klinefelter; art ... See more keywords
Seminal plasma miRNAs in Klinefelter syndrome and in obstructive and non-obstructive azoospermia
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DOI: 10.1007/s11033-020-05552-x
Abstract: MicroRNAs are small, non-coding, single-strand oligonucleotides which regulate gene expression. There is little evidence in the literature about their role in azoospermia and no studies have investigated their presence in the seminal plasma of men… read more here.
Keywords: klinefelter syndrome; non obstructive; azoospermia; seminal plasma ... See more keywords
Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?
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DOI: 10.1007/s12687-022-00585-0
Abstract: Klinefelter syndrome (KS) is the most frequent sex chromosome aneuploidy in males. KS diagnosis disclosure has an important impact on diagnosis acceptance and the increase in prenatal diagnostic procedures raises questions regarding communication to children/adolescents.… read more here.
Keywords: age; communication; diagnosis; children adolescents ... See more keywords
The steroid response to human chorionic gonadotropin (hCG) stimulation in men with Klinefelter syndrome does not change using immunoassay or mass spectrometry
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DOI: 10.1007/s40618-017-0653-7
Abstract: PurposeLiquid-chromatography tandem mass-spectrometry (LC-MS/MS) was developed in parallel to Immunoassays (IAs) and today is proposed as the “gold standard” for steroid assays. Leydig cells of men with Klinefelter syndrome (KS) are able to respond to… read more here.
Keywords: klinefelter syndrome; mass spectrometry; hcg; hcg stimulation ... See more keywords
Androgenization in Klinefelter syndrome: Clinical spectrum from infancy through young adulthood.
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DOI: 10.1016/j.jpurol.2021.02.021
Abstract: Klinefelter syndrome (KS) is an uncommon chromosomal disorder in males that has a variable clinical appearance. Classic KS involves an extra X chromosome, (47, XXY), although other variations may exist, including a milder mosaic form… read more here.
Keywords: klinefelter syndrome; young adulthood; androgenization; adulthood ... See more keywords
A symptomatic male carrier of Duchenne muscular dystrophy with Klinefelter's syndrome mimicking Becker muscular dystrophy
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DOI: 10.1016/j.nmd.2021.04.006
Abstract: Duchenne and Becker muscular dystrophy (DMD/BMD) are commonly inherited muscle disorders. We report a 31-year-old male who had muscle symptoms with left-right differences and intellectual disability. He was diagnosed with BMD at age 15 primarily… read more here.
Keywords: klinefelter syndrome; muscle; muscular dystrophy; dystrophy ... See more keywords
Combination of Klinefelter syndrome and celiac disease: A case report
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DOI: 10.1016/j.ymgmr.2017.01.008
Abstract: Klinefelter syndrome (KS) is a chromosomal abnormality characterised by a 47, XXY karyotype associated with hypogonadism and infertility. We present a case of a 20-year-old patient who applied to our clinic because of growth deficiency… read more here.
Keywords: klinefelter syndrome; celiac disease; syndrome celiac; case ... See more keywords
Testicular blood supply is altered in the 41,XXY* Klinefelter syndrome mouse model
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DOI: 10.1038/s41598-020-71377-0
Abstract: Hypergonadotropic hypogonadism is a major feature of Klinefelter syndrome (KS), assumed to be caused by testicular hormone resistance. It was previously shown that intratesticular testosterone levels in vivo and Leydig cell function in vitro seem… read more here.
Keywords: klinefelter syndrome; blood flow; testicular blood; xxy ... See more keywords