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Congenital Adrenal Hyperplasia
The New England journal of medicine, 2003-08, Vol.349 (8), p.776-788
2003

Details

Autor(en) / Beteiligte
Titel
Congenital Adrenal Hyperplasia
Ist Teil von
  • The New England journal of medicine, 2003-08, Vol.349 (8), p.776-788
Ort / Verlag
United States: Massachusetts Medical Society
Erscheinungsjahr
2003
Link zum Volltext
Quelle
Alma/SFX Local Collection
Beschreibungen/Notizen
  • Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex. The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90 percent of cases. This article discusses the molecular mechanisms, diagnosis, and management of this disease and highlights new developments, including genotype–phenotype correlations, gene-specific prenatal diagnosis, and prenatal therapy. New developments include gene-specific diagnosis and prenatal therapy. Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90 percent of cases. Since the last Medical Progress article on this topic was published in the Journal in 1987, 1 much has been learned about the genetics of the various clinical forms of 21-hydroxylase deficiency, and correlations between the genotype and the phenotype have been extensively studied. Gene-specific prenatal diagnosis is now feasible, and prenatal treatment has been more . . .

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