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Klinefelter Syndrome (klinefelter + syndrome)
Selected AbstractsThe cognitive phenotype in Klinefelter syndrome: A review of the literature including genetic and hormonal factorsDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 4 2009Richard Boada Abstract Klinefelter syndrome (KS) or 47,XXY occurs in ,1 in 650 males. Individuals with KS often present with physical characteristics including tall stature, hypogonadism, and fertility problems. In addition to medical findings, the presence of the extra X chromosome can lead to characteristic cognitive and language deficits of varying severity. While a small, but significant downward shift in mean overall IQ has been reported, the general cognitive abilities of patients with KS are not typically in the intellectual disability range. Most studies support that males with KS have an increased risk of language disorders and reading disabilities. Results of other studies investigating the relationship between verbal and nonverbal/spatial cognitive abilities have been mixed, with differing results based on the age and ascertainment method of the cohort studied. Executive function deficits have been identified in children and adults with KS, however, the research in this area is limited and further investigation of the neuropsychological profile is needed. In this article, we review the strengths and weaknesses of previous cognitive and neuropsychological studies in males with KS in childhood and adulthood, provide historical perspective of these studies, and review what is known about how hormonal and genetic factors influence cognitive features in 47,XXY/KS. © 2009 Wiley-Liss, Inc. Dev Disabil Res Rev 2009;15:284,294. [source] Is treatment with growth hormone effective in children with cerebral palsy?DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 8 2004Melanie L Shim MD Children with cerebral palsy (CP) often have poor linear growth during childhood, resulting in a diminished final adult height. Here we report a female with CP and short stature but without growth hormone (GH) deficiency who exhibited increased growth during treatment with GH. We also report two other children with CP who were treated with GH: one female with a history of leukemia, and a male with Klinefelter syndrome. These two children were both found to be GH-deficient by insulin provocative GH testing and responded to treatment with increased growth rate. Growth improved to a greater extent in the two children with apparent GH deficiency. In summary, it is felt that GH therapy might be beneficial for children with CP and warrants further investigation. [source] A probable case of gigantism in a fifth Dynasty skeleton from the Western Cemetery at Giza, EgyptINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 4 2005D. M. MulhernArticle first published online: 31 DEC 200 Abstract Pituitary gigantism is a rare endocrine disorder caused by excess secretion of growth hormone during childhood. Individuals with this condition exhibit unusually tall stature due to prolonged growth as well as associated degenerative changes. Continued secretion of excess growth hormone during adulthood results in acromegaly, a related condition that results in bony overgrowth of the skull, hands and feet. The remains of a large adult male, probably in his late 20s or early 30s, from a Fifth Dynasty tomb (2494,2345 BC) were excavated in 2001 from Cemetery 2500 in the Western Cemetery at Giza, Egypt, as part of the Howard University Giza Cemetery Project. This individual exhibits characteristics of pituitary gigantism, including tall but normally-proportioned stature, delayed epiphyseal union, a large sella turcica, advanced arthritis and a transepiphyseal fracture of the left femoral head. Additional pathological features, including osteopenia and thinness of the parietal bones, suggest that this individual may also have been hypogonadal. Craniometric comparisons with other ancient Egyptian groups as well as modern normal and acromegalic patients show some tendency toward acromegalic skull morphology. Differential diagnosis includes eunuchoid gigantism, Sotos syndrome, Beckwith-Wiedemann syndrome, Marfan syndrome, homocystinuria, Weaver syndrome and Klinefelter syndrome. In conclusion, the pathological features associated with this skeleton are more consistent with pituitary gigantism than any of the other syndromes that result in skeletal overgrowth. Copyright © 2004 John Wiley & Sons, Ltd. [source] Increased primary tooth size in a 47,XXY male: a first case reportINTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 4 2003M. L. Hunter Summary. Increased tooth size has previously been reported in association with Klinefelter syndrome. However, until now, this observation has been restricted to the permanent dentition. In this paper, we report increased mesio-distal width in the primary incisor and molar teeth of a 47,XXY male. [source] CMTX: heterozygosity for a GJB1/CX32 mutation in a XXY male results in a mild phenotypeJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 2 2004M Milani Mutations in the GJB1/Cx32 gene (Xq13.1) cause the most common X-linked form of CMT (CMTX1) and are the most frequent cause of CMT disease after the CMT1A duplication. The disorder is characterized by a moderate-to-severe neuropathy in affected males and mild-to-no symptoms in carrier females. We report here a CMT1A-negative family in which 4 females and 2 males were affected, exhibiting different disease severity. Molecular analysis of the GJB1/Cx32 gene uncovered a nonsense mutation (Arg22stop) in exon 2. The mutation, which had been previously described by others and observed by us in numerous other families, occurred in heterozygous form in the 4 females. However, while one of the two male patients was severely affected and shown to be hemizygous, as expected, the other was mildly affected and found to carry the mutation in heterozygous form. Genotyping at the SRY (Yp11.3) and DMD (Xp21) loci suggested the occurrence of the XXY genotype associated with Klinefelter syndrome. Microsatellite analysis indicated that the nondysjunctional error was of paternal origin, as it is usually observed in about half the cases. The patient had no children. At clinical examination, he exhibited a very mild neurologic phenotype and showed signs of hypogonadism (mild gynecomastia and small testes) as well as moderate cognitive impairment. Electrophysiologic, cytogenetic and endocrinologic investigations are in progress in order to define the unusual phenotype in this patient. [source] Erythropoietin-resistant anaemia in a predialysis patient with Klinefelter syndromeNEPHROLOGY, Issue 2 2005Case Report SUMMARY: A diabetic predialysis patient who had significantly reduced sensitivity to erythropoietin therapy was admitted to Tsukuba University Hospital. Many factors that might have been the cause of the erythropoietin resistance were examined, and a diagnosis of refractory anaemia was made based on a bone marrow aspiration biopsy. A cytogenetic abnormality (47, XXY) was also detected in the bone marrow biopsy specimen, and hence the patient was also diagnosed with Klinefelter syndrome. It was suspected that the sex chromosome abnormality influenced glucose intolerance, renal insufficiency, and erythropoietin resistance due to myelodysplastic changes in the bone marrow. [source] Ethics of using a bone marrow donor with Klinefelter syndromePEDIATRIC TRANSPLANTATION, Issue 5 2008Margaret M. McGovern No abstract is available for this article. [source] Placental mesenchymal dysplasia associated with fetal aneuploidyPRENATAL DIAGNOSIS, Issue 3 2005Marta C. Cohen Abstract Objectives To describe three cases of placental mesenchymal dysplasia (PMD) associated with abnormal karyotype and review the cases reported in the literature. Methods The cases were retrieved from the files of three different institutions. A search of the English language literature was performed using Medline database. Results Placental abnormalities suggestive of molar changes were seen on the prenatal ultrasound scans. Histologically, the cases had large, hydropic stem villi with myxomatous stroma, cistern formation and ,chorangiomatoid' changes. The placental and fetal karyotypes identified were trisomy 13 (47,XX,t(1:13)(q32;q32)+ 13); Klinefelter syndrome (47,XXY) and triploidy (69,XXX). Including these 3 cases, of 66 reported cases, 51 (78%) were female and 14 (22%) male (ratio 3.6:1); the karyotype was normal in 32/36 (89%) and abnormal in 4/36 (11%); Beckwith,Wiedemann syndrome was confirmed or suspected in 15/66 (23%). Excluding termination of pregnancies, intrauterine death occurred in 18/54 (33%) cases. Conclusion Molar ultrasonographic appearances associated with increased maternal serum alpha-fetoprotein but normal, or slightly elevated, levels of ß human Chorionic Gonadotrophin should raise the clinical suspicion of PMD. The diagnosis of this condition should not be disregarded when an abnormal fetus and/or an abnormal karyotype are demonstrated. Copyright © 2005 John Wiley & Sons, Ltd. [source] Increased IL-18 Levels in Seminal Plasma of Infertile Men with Genital Tract InfectionsAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 6 2006Ioannis M. Matalliotakis Problem Interleukin (IL)-18 is a novel cytokine, previously known as interferon (IFN)- , inducing factor. We evaluated the levels of IL-18 and IFN- , in seminal plasma (SP) of fertile and infertile men. Method of study Semen samples were obtained by masturbation from 80 men, and were examined for the levels of IL-18 and IFN- , by enzyme-linked immunosorbent assay. Seven groups were included: (i) fertile men (n = 18), (i) infertile men with genital tract infections (n = 17), (iii) with varicocele (n = 15), (iv) with Klinefelter syndrome (n = 6), (v) with cryptorchidism (n = 7), (vi) with mumps orchitis (n = 7), and (vii) with idiopathic testicular lesions (n = 10). Results Mean levels of IL-18 were higher in SP from infertile men with genital tract infections compared with SP from other groups except Klinefelter syndrome (P < 0.05). However, no significant differences could be detected for IFN- ,. A significant positive correlations was found between IL-18 and IFN- , in total patient population (P < 0.001). Moreover, a negative correlation was observed between IL-18 and sperm concentrations, and motility (P < 0.01 and <0.03, respectively). Furthermore, there was a positive and statistically significant association between IL-18 and IFN- , levels in SP of infertile men with genital tract infections (P < 0.0001). However, there was no relationship between IL-18 and IFN- ,, and semen parameters in the same group. Conclusion SP IL-18 levels were increased in men with urogenital infections. Thus, the elevated expression of IL-18 in SP may be used as a diagnostic marker in the male genital tract infections. [source] Genomic imprinting in the development and evolution of psychotic spectrum conditionsBIOLOGICAL REVIEWS, Issue 4 2008Bernard Crespi Abstract I review and evaluate genetic and genomic evidence salient to the hypothesis that the development and evolution of psychotic spectrum conditions have been mediated in part by alterations of imprinted genes expressed in the brain. Evidence from the genetics and genomics of schizophrenia, bipolar disorder, major depression, Prader-Willi syndrome, Klinefelter syndrome, and other neurogenetic conditions support the hypothesis that the etiologies of psychotic spectrum conditions commonly involve genetic and epigenetic imbalances in the effects of imprinted genes, with a bias towards increased relative effects from imprinted genes with maternal expression or other genes favouring maternal interests. By contrast, autistic spectrum conditions, including Kanner autism, Asperger syndrome, Rett syndrome, Turner syndrome, Angelman syndrome, and Beckwith-Wiedemann syndrome, commonly engender increased relative effects from paternally expressed imprinted genes, or reduced effects from genes favouring maternal interests. Imprinted-gene effects on the etiologies of autistic and psychotic spectrum conditions parallel the diametric effects of imprinted genes in placental and foetal development, in that psychotic spectrum conditions tend to be associated with undergrowth and relatively-slow brain development, whereas some autistic spectrum conditions involve brain and body overgrowth, especially in foetal development and early childhood. An important role for imprinted genes in the etiologies of psychotic and autistic spectrum conditions is consistent with neurodevelopmental models of these disorders, and with predictions from the conflict theory of genomic imprinting. [source] Sexual dysfunction in subjects with Klinefelter's syndromeINTERNATIONAL JOURNAL OF ANDROLOGY, Issue 4 2010G. Corona Summary While the association of Klinefelter's Syndrome (KS) with infertility is well-known, very few investigations have evaluated the prevalence of sexual dysfunction in KS. The aim of the present study was to systematically analyse the prevalence of KS in a consecutive series of adult male patients consulting for sexual problems and to investigate its specific correlates. Among a consecutive series of 1386 men (mean age 48.9 ± 12.7 years old), 23 (1.7%) subjects with KS were found. Patients with KS were younger and more often hypogonadal when compared with the rest of the sample. Among patients with KS, five (22.7%) subjects reported severe erectile dysfunction, 14 (60.9%) hypoactive sexual desire (HSD), two (9.5%) premature and two (9.5%) delayed ejaculation. Only the association between KS and HSD was confirmed after adjustment for age [HR = 3.2 (1.37,7.5)], however, when patients with KS were compared with age, smoking habit, and testosterone matched controls, even the association between KS with HSD disappeared. In comparison to matched hypogonadal controls, subjects with KS had lower levels of education, a higher frequency of cryptorchidism and poorer pubertal progression. In conclusion, our results indicate that sexual dysfunction present in KS is not specifically associated with the syndrome but is caused by the underlying hypogonadal state. Further studies are needed to evaluate the efficacy of testosterone substitution in ameliorating the hypoactive sexual desire often reported in subjects with KS. [source] Transplanted XY germ cells produce spermatozoa in testes of XXY mice,INTERNATIONAL JOURNAL OF ANDROLOGY, Issue 4 2010Y. Lue Summary XXY mouse has been characterized as an experimental model for men with Klinefelter's syndrome (XXY male phenotype). To test whether donor XY germ cells could proliferate and differentiate in the XXY testicular environment, donor testicular cells from adult (2,3 months old) and immature (10 days old) XY green fluorescence protein (GFP) transgenic mice were transplanted into the seminiferous tubules of adult (4,7 months old) and young (6 weeks old) XXY recipient mice respectively. Twelve weeks after transplantation, GFP positive spermatogonia were found in 21.74% (five out of 23) of adult XXY recipients who received adult donor cells. The GFP positive segments of seminiferous tubules were observed in 44.44% (four out of nine) young XXY recipients who received donor cells from 10 days old GFP mice. We found using immunohistochemistry and cell morphology that donor-derived GFP positive germ cells were spermatogonia, spermatocytes, round spermatids and spermatozoa in some of the seminiferous tubules of young XXY recipient mice. The results demonstrated that the donor XY germ cells were able to qualitatively complete spermatogenesis in some of the seminiferous tubules of XXY mice. [source] Klinefelter's syndrome and rheumatoid arthritis: report of a case and review of the literatureINTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, Issue 1 2010Hussein F. AL-ARFAJ Abstract Kilnefelter's syndrome (KFS) tends to be associated with autoimmune diseases. Although several reports describe association of KFS with different autoimmune diseases, association with rheumatoid arthritis is very rare. We report a case of (KFS) who had seropositive erosive rheumatoid arthritis, and discuss the role of sex hormones/X chromosome in the pathogenesis of disease. [source] Increased activity of factor VIII coagulant associated with venous ulcer in a patient with Klinefelter's syndromeJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 2 2005J Dissemond ABSTRACT Klinefelter's syndrome is the most frequent major abnormality of sexual differentiation in men with two or more X chromosomes. Recurrent venous ulcers as a result of a post-thrombotic syndrome are a well known symptom in patients with Klinefelter's syndrome. Until now the underlying pathomechanisms are not completely understood. Platelet hyperaggregability, factor V Leiden mutation and abnormalities in fibrinolysis were implicated as possible contributing factors. Here we describe the detection of an increased activity of factor VIII coagulant (factor VIII:C). This is the first case report on increased factor VIII:C activity associated with venous ulcers in a patient with Klinefelter's syndrome. Elevated factor VIII plasma levels are gradually accepted to be associated with an increased risk for venous thromboembolism. Therefore, we discuss that the examination of factor VIII:C may help in clarifying individual thromboembolic risks, especially in patients with Klinefelter's syndrome. [source] Age as only predictive factor for successful sperm recovery in patients with Klinefelter's syndromeANDROLOGIA, Issue 2 2009K. Ferhi Summary The study was performed to determine factors affecting successful sperm retrieval by testicular sperm extraction in patients with nonmosaic Klinefelter's syndrome (KS). From May 2001 to February 2007, 27 azoospermic patients were diagnosed as having nonmosaic KS. All patients underwent sperm testicular extraction. Patient's age, testicular volume, serum follicle-stimulating hormone (FSH) and inhibin B were assessed as predictive factors for successful sperm recovery. Of the 27 Klinefelter's patients examined, eight (29.6%) had successful sperm recovery. The comparisons of serum FSH, inhibin B and testicular volume between patients with and without successful sperm retrieval did not show any statistical significance. The patients with successful sperm recovery were significantly younger (28.6 ± 3.11 years) than those with failed attempts (33.9 ± 4.5 years, P = 0.002). The rate of positive sperm retrieval was significantly higher in patients younger than 32 years compared with patients older than 32 years (P = 0.01, chi-squared test). The study showed that clinical parameters such as FSH, inhibin B and testicular volume do not have predictive value for sperm recovery in patients with KS. The mean age of our patients with successful sperm recovery was significantly lower than that of men with unsuccessful results. Testicular sperm extraction or testicular sperm aspiration should be performed before the critical age of 32 years. [source] Use of a highly sensitive quantitative telomerase assay in intracytoplasmic sperm injection programmes for the treatment of 47,XXY non-mosaic Klinefelter men,ANDROLOGIA, Issue 4 2002Y. Yamamoto Summary. We evaluated the role of the sensitive quantitative telomerase assay (SQTA) in the management of men with non-mosaic Klinefelter's syndrome (KS). Diagnostic testicular biopsy (DTB) was performed in 24 men with KS. A part of the DTB was stained and the remaining fragment was processed for the SQTA. After 3,18 months, a therapeutic testicular biopsy (TTB) was performed in the same testicle and the recovered specimens were processed to identify spermatozoa. Men with a SQTA outcome equal to 0.00 Units ,g,1 protein (n=7) demonstrated therapeutic testicular biopsy material that was negative for spermatogenic cells. In five men with a SQTA outcome of 8.11,38.03 Units ,g,1, the most advanced germ cell was the spermatogonium/primary spermatocyte. In the remaining 12 men, the most advanced spermatogenic cell in the TTB was the spermatozoon. In these men, the SQTA outcome was equal to 25.76,92.68 Units ,g,1 protein. Using 39.00 Units ,g,1 protein as a cut-off value, the accuracy of the SQTA in identifying men positive for spermatozoa was 91.6%. It appears that the SQTA has a role for identifying non-mosaic KS men who have testicular spermatozoa. [source] | |||||||||||||||||||||||||