Hiperplasia suprarrenal congénita. Características clínicas, seguimiento y genotipo en la etapa perinatal, la niñez y la adolescencia. La hiperplasia suprarrenal. La hiperplasia suprarrenal congénita incluye los trastornos hereditarios de la síntesis suprarrenal del cortisol. Se conoce 5 formas clínicas, el déficit de Se presenta el caso de un recién nacido con hiperplasia suprarrenal congénita y aumento de la translucencia nucal fetal. También se describen las posibles.

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Hiperplasia suprarrenal congénita (CAH por sus siglas en inglés): Artículos científicos

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Horm Res, 51pp. Nevertheless, as patients with the classical form of CAH are at high risk of testicular adrenal rest tumors, ultrasonography should be proposed during follow up for early nodules detection and glucocorticoid dose adjustment View Table Favorite Table Download. Proceedings of the National Academy of Sciences, 7The use of congennita as a treatment for congenital adrenal hyperplasia.


Lancet, 2pp.

J Clin Endocrinol Metab, 57pp. Are there parental socialization effects on the sex-typed behavior of individuals with congenital adrenal hyperplasia? Disease expression and molecular genotype in congenital adrenal hyperplasia due to hydroxylase deficiency.

Variations in pattern of pubertal changes in girls.

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Psychoneuroendocrinology, 17pp. Psychoneuroendocrinology, 18pp. Bone, 18pp. J Clin Endocrinol Metab, 74pp. Genetic mapping of the hydroxylase deficiency gene within the HLA linkage group.

Trends Endocrinol Metab, 4pp. Comprehensive genetic analysis of unrelated families with congenital adrenal hyperplasia due to hydroxylase deficiency.

Genotyping steroid hydroxylase deficiency: Genetics, diagnosis and management of hydroxylase deficiency. A continuum of disorders. Patterns of growth from birth to maturity in infants and children with congenital adrenal hyperplasia.

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Testicular biopsy confirmed the diagnosis of adrenal rests. World J Surg, 24pp. J Clin Endocrinol Metab, 58pp. The role of androgens in male gender role behaviour.

Indeed, the five female infants with classical CAH diagnosed at birth, presented ambiguous genitalia. Recommendations for the diagnosis and treatment of classic Sign in via Shibboleth. Benign testicular tumors in suprarrena, with congenital adrenal hyperplasia.

Clin Endocrinol Oxf21pp. Pop-up div Successfully Displayed This div only appears when the trigger link is hovered over.

Hiperplasia suprarrenal congénita (CAH por sus siglas en inglés): Artículos científicos

J Biol Chem ; J Paediatr Child Health, hipreplasiapp. Acta Paediatr,pp. Human Genetics b; New coongenita options are currently under investigation, including the use of antiandrogens, estrogen synthesis inhibitors, and adrenalectomy. Analysis of point mutations in the CYP21A2 gene was performed according to methods established in our laboratory, using DNA from peripheral blood leucocytes Continuing navigation will be considered as acceptance of this use.

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A molecular study of Argentine patients. Horm Res,pp.

Congenital adrenal hyperplasia owing to hydroxylase deficiency. Are you a health professional able to prescribe or dispense drugs? Analyses of point mutations in the CYP21A2 gene were performed.

Congenital adrenal hyperplasia is a term that includes all hereditary disorders of adrenal cortisol synthesis. Genotypes of parents, when available, allowed us to determine if the mutations found were in separate alleles. A meta-analysis from 18 other centers data showed a mean final height of 1.

N Engl J Med,pp. Pediatrics,pp. Our objective is to describe clinical characteristics, growth, and bone mass in a group of congenlta affected by hydroxylase deficiency. Hormonal evaluation and mutation screening for steroid hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas.