21 Hydroxylase Deficiency
Mostrando 13-24 de 62 artigos, teses e dissertações.
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13. Body composition and proportions in females with classical 21-hydroxylase deficiency / Composição e proporções corporais de meninas com a forma classica de deficiencia da 21-hidroxilase
A Hiperplasia Adrenal Congênita na forma clássica da deficiência da 21-hidroxilase (HAC-C-D21OH) caracteriza-se pela deficiência na síntese do cortisol e, em alguns casos, na aldosterona, e pelo excesso de andrógenos. O objetivo do estudo foi avaliar a composição e as proporções corporais de pacientes do sexo feminino com HAC-C-D21OH e comparar em
Publicado em: 2008
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14. Search of prostatic tissue in 46,XX congenital adrenal hyperplasia patients / Pesquisa de tecido prostático em pacientes 46,XX portadoras da forma clássica de hiperplasia congênita das supra-renais
Introduction: The presence of prostatic tissue in 46,XX congenital adrenal hyperplasia (CAH) patients has already been reported. The development of this tissue is due to androgenic stimulation in Skenes paraurethral glands by dihydrotestosterone. These glands have histological and enzymatic homology with the prostate. So far, two cases with alterations of pr
Publicado em: 2007
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15. Hiperplasia congenita das supra-renais por deficiencia da 21-hidroxilase : crescimento e composição corporal de crianças com a forma classica, variante perdedora de sal / Congenital adrenal hyperplasia due to 21-hydroxylase deficiency : growth and body composition of children with salt wasting classification
o objetivo do presente estudo foi avaliar o crescimento e a composição corporal de crianças com Hiperplasia Congênita das Supra-renais. Foram incluídas no estudo 21 crianças pré-puberes (8M/I3F) entre 2,1 e 10,2 anos de idade, portadoras de Hiperplasia Congênita das Supra-renais por deficiência de 21-hidroxilase forma clássica perdedora de sal, que
Publicado em: 2007
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16. Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia
Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). We determined by allele-specific PCR the frequency of microconversion in the CYP21A2 gene in 50 Brazilian patients with the classical (salt wasting: SW and simple virilizing: SV) forms and nonclassical (NC) form of CAH-21OH and correlated genotype with phenotyp
Brazilian Journal of Medical and Biological Research. Publicado em: 2003-10
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17. Estudo molecular da hiperplasia adrenal congenita por deficiencia da enzima 21-hidroxilase correlação genotipo-fenotipo
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH-21OHD) is one of the most common inborn metabolism errors. It presents a wide spectrum of clinical manifestations, varying from a severe form with prenatal virilization and neonatal dehydration to a mild form in which the signs appear around puberty onset. It presents recessive autosomal in
Publicado em: 2002
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18. Determinação de mutações e polimorfismos no gene CYP11B1 humano em individuos com deficiencia de 11 Beta-hidroxilase / c Junia Yara Penachioni
Congenital adrenal hyperplasia (CAR) is one of the most common inherited endocrine diseases. More than 90% of cases are due to steroid 21-0H deficiency, where as 5-8% are caused by 11 beta -hydroxylase (11 beta -0H) deficiency, the inherited inability to synthesize cortisol (failure to convert 11-deoxycortisolto cortisol). ... Note: The complete abstract is
Publicado em: 2001
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19. Hiperplasia congenita das supra-renais por deficiencia classica da 21-hidroxilase : estudo transversal dos fatores envolvidos na densidade mineral ossea areal em 45 casos
INTRODUCTION: Glucocorticoids are essential in the treatment of patients with Congenital Adrenal Hyperplasia (CAH). The opposite actions of glucocorticoids and androgens in bone mass achievement justifies a study of bone mineral density (BMD) inpatients with CAH due to c1assic21-hydroxylase deficiency (CYP21A2). OBJECTIVES: To evaluate BMD in patients with C
Publicado em: 2001
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20. 21-Hydroxylase deficiency in Brazil
We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series described, whereas the frequency of large gene conversions was similar to the frequency reported in the l
Brazilian Journal of Medical and Biological Research. Publicado em: 2000-10
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21. Linkage and association between HLA and 21-hydroxylase deficiency.
Congenital adrenal hyperplasia because of 21-hydroxylase deficiency is closely linked to the HLA system. The lod scores in 14 informative families are presented. Apart from linkage, the 21-hydroxylase deficiency is associated with an increase of BW47 antigen and lack of B8 antigen in patients. A family with a possible recombination between the 21-hydroxylase
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22. Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese.
A highly polymorphic XbaI restriction site flanking the human 21-hydroxylase genes (21-OHA and 21-OHB) was found with the probe pC21/3c, the cDNA of the 21-hydroxylase gene. From the results of RFLP analysis of 10 subjects with congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency and their parents, at least four polymorphic fragments (30 k
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23. 21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.
During our investigations of polymorphisms at, and in the immediate chromosomal vicinity of, the 21-hydroxylase locus in families with 21-hydroxylase deficiency, three families were found to show marked discordance in clinical features of HLA identical subjects. In one family, there is discordance between a boy with the simple virilising form of 21-hydroxyla
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24. Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
Lesions in the gene encoding steroid 21-hydroxylase [steroid hydrogen-donor: oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10] result in defective adrenal steroid synthesis; the severe forms are known as congenital adrenal hyperplasia. To facilitate complete characterization of mutations in this region of tandemly repeated genes, we have developed sel