Kallmann Syndrome
Mostrando 1-12 de 26 artigos, teses e dissertações.
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1. Hypogonadotropic Hypogonadism Revisited
Impaired testicular function, i.e., hypogonadism, can result from a primary testicular disorder (hypergonadotropic) or occur secondary to hypothalamic-pituitary dysfunction (hypogonadotropic). Hypogonadotropic hypogonadism can be congenital or acquired. Congenital hypogonadotropic hypogonadism is divided into anosmic hypogonadotropic hypogonadism (Kallmann s
Clinics. Publicado em: 2013
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2. Mutações inativadoras dos genes PROK2 e PROKR2 em pacientes com hipogonadismo hipogonadotrófico isolado / PROK2 and PROKR2 inactivating mutations in patients with idiopathic hypogonadotropic hypogonadism
O sistema da procineticina desempenha um papel importante na migração dos neurônios secretores de GnRH e na neurogênese do bulbo olfatório. Camundongos com ablação dos genes que codificam a procineticina 2 (PROK2) e seu receptor (PROKR2) apresentaram fenótipos semelhantes ao da síndrome de Kallmann descrita em humanos. Mutações inativadoras nos ge
Publicado em: 2011
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3. Alterações neurorradiológicas em pacientes com Síndrome de Kallmann: estudos por Ressonância Magnética / Neuroradiologic changes in Kallmann Syndrome: studies with Magnetic Resonance Imaging.
A Síndrome de Kallmann (SK), associação entre hipogonadismo hipogonadotrófico e distúrbio olfatório (hiposmia ou anosmia), é causada por uma deficiência da migração neuronal que envolve as células produtoras do hormônio liberador de gonadotrofinas e os neurônios olfatórios, com origem embriológica comum. O primeiro gene descrito, KAL1, codific
Publicado em: 2009
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4. Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome
Mutations in the KAL-1 gene localized at Xp22.3 have been shown to be responsible for the X-linked Kallmann syndrome (KS), a disorder characterized by the association of hypogonadotropic hypogonadism and anosmia. In this paper, we describe the investigation of two families with X-linked KS, in which similar interstitial deletions ning exons 5 to 10 of the KA
Genetics and Molecular Biology. Publicado em: 2004
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5. Cytogenetic analysis and detection of KAL-1 gene deletion with fluorescence in situ hybridization (FISH) in patients with Kallmann syndrome
A síndrome de Kallmann (SK) é caracterizada clinicamente pela associação de hipogonadismo hipogonadotrófico e anosmia ou hiposmia, para a qual três modos de herança foram descritos: ligada ao X, autossômica dominante e recessiva. O gene KAL-1, responsável pela forma da síndrome ligada ao X, foi isolado e sua organização éxon-íntron determinada.
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2001-12
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6. X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.
Kallmann syndrome represents the association of hypogonadotropic hypogonadism with anosmia. This syndrome is from a defect in the embryonic migratory pathway of gonadotropin-releasing hormone synthesizing neurons and olfactory axons. A candidate gene for the X chromosome-linked form of the syndrome was recently isolated by using a positional cloning strategy
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7. Familial spastic paraplegia with Kallmann's syndrome.
A sibship is reported in which two males have spastic paraparesis and Kallmann's syndrome (hypogonadotrophic hypogonadism and anosmia). One of the brothers also is color blind. The association of familial spastic paraplegia and Kallmann's syndrome has not been described previously.
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8. Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.
Prometaphase chromosomes from a 16 year old boy with hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome) showed a tiny chromosome fragment attached to the long arm of one chromosome 1 without a visible reciprocal translocation chromosome. Chromosome painting with libraries from chromosomes 1 and X excluded a t(X;1) translocation, but failed to det
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9. Identical twins discordant for Kallmann's syndrome.
A 20 year old male patient presented with lack of sexual development. On examination he was eunuchoidal and hypogonadal, and olfactory function testing showed he was anosmic. Biochemical investigations proved he was hypogonadotrophic. Kallmann's syndrome was therefore diagnosed. His appearance was very different from his alleged identical twin who had underg
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10. Extra chromosome in Kallmann's syndrome.
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11. A case of hypogonadotrophic hypogonadism with anosmia (Kallmann's syndrome) in a male, with familial incidence of a small metacentric chromosome (47,XX, mat?+).
A case of Kallmann's syndrome in a male is reported. Besides the classical picture of hypogonadotrophic hypogonadism (demonstrated both by endocrine investigation and a testicular biopsy) with anosmia, a number of other unusual features are present including gynaecomastia, agencies of the anterior brachial muscles, some dental abnormalities, and dyschromatop
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12. Clinical and inheritance profiles of Kallmann syndrome in Jordan
BioMed Central.