Klinefelter Syndrome
Mostrando 1-12 de 38 artigos, teses e dissertações.
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1. Educational status, testosterone replacement, and intelligence outcomes in Klinefelter syndrome
RESUMO. A maioria dos casos de hipogonadismo hipergonadotrófico masculino associado à infertilidade pode ser atribuída a uma única condição genética — a síndrome de Klinefelter (KS). A ampla variabilidade fenotípica dessa doença está frequentemente associada a linhagens de mosaico 47,XXY e também à reposição de testosterona. O diagnóstico e
Dementia & Neuropsychologia. Publicado em: 2022
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2. Homicide and Klinefelter syndrome: a complex interaction
Introduction: Several studies have shown an association between homicide and sexual chromosomal abnormalities, but data are still lacking regarding Klinefelter syndrome. Methods: We retrospectively reviewed two cases of homicide perpetrators who were both diagnosed with Klinefelter syndrome on the basis of a karyotype analysis. A neurocognitive assessment
Rev. Bras. Psiquiatr.. Publicado em: 23/12/2013
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3. Antropometria do pênis em pacientes com lúpus eritematoso sistêmico / Penile anthropometry in systemic lupus erythematosus
Objetivo: Avaliar a antropometria do pênis em pacientes com lúpus eritematoso sistêmico (LES) e controles. A possível influência da puberdade e dos fatores clínicos, hormonais e terapêuticos nas mediadas penianas em pacientes lúpicos. Métodos: Vinte e cinco pacientes consecutivos com LES foram avaliados através de exame urológico, ultrassonografia
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 03/07/2012
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4. Novel concepts in male infertility
Extraordinary advances have been achieved in the field of male infertility in the last decades. There are new concepts in sperm physiology and several modern tools for the assessment of spermatogenesis kinetics in vivo. New tests using molecular biology and DNA damage assays allow the clinician to correctly diagnose men so far classified as having idiopathic
International braz j urol. Publicado em: 2011-02
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5. Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men
The objective of the present study was to determine the frequency of somatic chromosomal anomalies and Y chromosomal microdeletions (azoospermia factor genes, AZF) in infertile males who seek assisted reproduction. These studies are very important because the assisted reproduction techniques (mainly intracytoplasmic sperm injection) bypass the natural select
Brazilian Journal of Medical and Biological Research. Publicado em: 2006-04
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6. 49,XXXXY: a distinct phenotype. Three new cases and review.
Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently labelled as having Klinefelter syndrome or as being a "Klinefel
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7. Systemic lupus erythematosus and Klinefelter's syndrome.
A case of Klinefelter's syndrome presenting with systemic lupus erythematosus while receiving androgen replacement therapy is described. The association of systemic lupus erythematosus with Klinefelter's syndrome is discussed, particularly in terms of the effect of sex hormones.
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8. Klinefelter's syndrome associated with a D/D translocation.
A case of Klinefelter's syndrome and a simultaneous familial D/D translocation is described. The clinical, endocrine, and psychiatric features were typical of those found in Klinefelter's syndrome. Other family members showed no obvious abnormality despite presence of the D/D translocation.
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9. Hypostatic ulcers in 47,XXY Klinefelter's syndrome
Hypostatic leg ulcers, probably secondary to vascular insufficiency, were observed in two adult men with 47,XXY Klinefelter's syndrome. The association between leg ulcers and 47,XXY Klinefelter's syndrome deserves increased attention because knowledge of the association may alert clinicians to an otherwise unsuspected chromosome abnormality.
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10. Taurodontism and Klinefelter's syndrome.
The incidence of taurodontism in 31 patients with XXY Klinefelter's syndrome was studied. Taurodont molars were observed in 6 of the 31 cases (19.4%), a significantly higher rate than among the controls. Though taurodontism is not an obligatory finding in Klinefelter's syndrome, it is believed to be one of the anomalies frequently observed in connection with
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11. Congenital hypothyroidism in Klinefelter's syndrome.
Congenital hypothyroidism has been found in four patients with Klinefelter's syndrome. It is likely that this reflects more than chance concurrence of these conditions.
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12. A case of Klinefelter's syndrome with 47,Xi(Xq)Y karyotype*
A patient with Klinefelter's syndrome is described, in whom a 47,Xi(Xq)Y karyotype was established by trypsin-Giemsa and by BrdU acridine banding studies.