Klinefelter Syndrome
Klinefelter Syndrome: A Chromosome Disorder
... Klinefelter syndrome is the most common genetic sex chromosome disorder cause of human male ...spermatogenesis. Klinefelter syndrome or XXY terms are often used interchangeably, they actually ...
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Effect of Testosterone Replacement Therapy on Bone Mineral Density in Patients with Klinefelter Syndrome
... Purpose: Klinefelter syndrome (KS) is related to testicular insufficiency, which causes low testosterone levels in serum. Generally, sex hormone levels and bone mineral density (BMD) are lower in patients ...
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Case Report Pseudomembranous trigonitis in a male with Klinefelter syndrome: a case report and evidence of a hormonal etiology
... with Klinefelter syndrome to be at risk for female-predominated diseases such as pseudomembranous ...of Klinefelter syndrome with estrogen-driven cancers such as breast ...
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Psychiatric Characteristics in a Self-Selected Sample of Boys With Klinefelter Syndrome
... METHOD. Fifty-one subjects with Klinefelter syndrome aged 6 to 19 years were included through the Dutch Klinefelter association and 2 university medical centers. The sample was screened by using ...
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Calcifying nested stromal epithelial tumor of the liver in a patient with Klinefelter syndrome: a case report and review of the literature
... Klinefelter syndrome occurs in males with at least one Y chromosome and at least two X ...This syndrome was first reported by Klinefelter et ...reports. Klinefelter syndrome is ...
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Case – Severely oligozoospermic patient with both mosaic Klinefelter syndrome and a complete AZFc Y chromosome microdeletion
... Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in males and is the most common genetic cause of male ...mosaic Klinefelter syndrome ...
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The nature of social cognitive deficits in children and adults with Klinefelter syndrome (47,XXY)
... About 1 in 650 boys are born with an extra X chromosome (47,XXY or Klinefelter syndrome). 47,XXY is associated with vulnerabilities in socio-emotional development. This study was designed to assess types of ...
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Two Patients with Intraspinal Germinoma Associated with Klinefelter Syndrome: Case Report and Review of the Literature
... Because the patient was a tall (180 cm) and slender man who had shown gonadal dysfunction, Klinefelter syndrome was suspected. Cy- togenetic studies of peripheral blood lymphocytes revealed a 47XXY ...
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<p>Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome)</p>
... Abstract: 47,XXY (Klinefelter syndrome [KS]) is the most common sex chromosomal aneuploidy (1:660), yet, despite this, only 25% of the males are ever diagnosed. Males with 47,XXY present with characteristic ...
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XXY (Klinefelter Syndrome): A Pediatric Quantitative Brain Magnetic Resonance Imaging Case-Control Study
... We recruited XXY males nationwide with the help of 2 parent advocacy groups: the American Association for Klinefelter Syndrome Information and Support (AAK- SIS) and Klinefelter Syndrome and ...
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Emotion regulation in adults with Klinefelter syndrome (47,XXY): Neurocognitive underpinnings and associations with mental health problems
... Klinefelter syndrome (47,XXY), characterized by the presence of an extra X chromosome in males, is a genetic condition affecting approximately one in 650 boys and ...
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A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity
... Congenital adrenal hyperplasia (CAH) due to the three-beta-hydroxysteroid-dehydrogenase (3 β -HSD) enzyme deficiency is a rare autosomal recessive disorder presenting with sexual precocity in a phenotypic male. ...
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Klinefelter syndrome and other sex chromosomal aneuploidies
... Harry Klinefelter published a report on nine men with a constellation of features: testicular dysgenesis, elevated urinary gonadotropins, microorchidism, eunu- choidism, azoospermia, and gynecomastia ...that ...
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Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease.
... This article describes a case of double trisomy 48,XXY,+21, with severe heart disease. According to the literature, the types of heart disease in Down-Klinefelter syndrome are varied. There seem to be ...
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Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome
... 14. Price WH, van der Molen HJ. Plasma tes- tosterone levels in males with the 47,XYY karyotype. J Endocrinol. 1970;47(1):117 – 122 15. Ross JL, Zeger MP, Kushner H, Zinn AR, Roeltgen DP. An extra X or Y chromosome: ...
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Fire-Setting Behavior in Individuals With Klinefelter Syndrome
... male individuals with fire-setting behavior who have any of the clinical features of Klinefelter syndrome such as gynecomastia, hypogonadism, cryptorchidism, or speech difficulties. Reco[r] ...
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A case of Klinefelter syndrome with hypersexual desire
... Klinefelter syndrome (KS) is a chromosomal disorder affecting males, with the typical karyotype of 47,XXY due to a supernumerary X chromosome, which causes progressive testicular failure resulting in ...
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Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics
... The usage of ANN in disease classification happens very often [15–27], though there have been only few studies investigating neural networks in genome-enabled predictions and classifications [28, 29]. As for cytogen- ...
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Unraveling autism spectrum disorders through genetically defined syndromes: Autistic traits and social cognition in Klinefelter syndrome and Triple X syndrome
... X syndrome on the ...X syndrome is that on difficulties with overall social functioning (Bender, Harmon, Linden, Bucher- Bartelson, & Robinson, 1999; Geschwind, Boone, Miller, & Swerdloff, 2000; ...
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Molecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies
... As a confirmatory approach to distinguish males with 48,XXYY and 46,XY karyotypes, 18 X-linked markers were PCR amplified and the amplicons subjected to Pyrosequencing using DNA from all 48,XXYY males. The relative ...
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