Browsing by Subject "21-hydroxylase deficiency"

Now showing items 1-5 of 5

    • 21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency 

      Tonetto-Fernandes, Vânia [UNIFESP]; Lemos-Marini, Sofia Helena Valente de; Mello, Maricilda Palandi de; Ribeiro-Neto, Luciane Maria [UNIFESP]; Kater, Claudio Elias [UNIFESP] (Walter De Gruyter Gmbh, 2008-05-01)
      21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11 beta OHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 210HD ...

    • The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia 

      Kaupert, L. C.; Lemos-Marini, S. H. V.; Mello, Maricilda Palandi de [UNIFESP]; Moreira, R. P.; Brito, V. N.; Jorge, A. A. L.; Longui, C. A.; Guerra, G.; Mendonca, B. B.; Bachega, T. A. (Wiley-Blackwell, 2013-11-01)
      The 21-hydroxylase deficiency (21OHD) is caused by CYP21A2 mutations resulting in severe or moderate enzymatic impairments. 21OHD females carrying similar genotypes present different degrees of external genitalia virilization, ...

    • Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening 

      Soardi, Fernanda Caroline; Lemos-Marini, Sofia Helena Valente de; Coeli, Fernanda Borchers; Maturana, Víctor Gonçalves; Silva, Márcia Duarte Barbosa da; Bernardi, Renan Darin; Justo, Giselle Zenker [UNIFESP]; Mello, Maricilda Palandi de (Sociedade Brasileira de Endocrinologia e Metabologia, 2008-11-01)
      Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by ...

    • Hiperplasia adrenal congênita em mulheres adultas: manejo de antigos e novos desafios 

      Costa-Barbosa, Flávia A.; Telles-Silveira, Mariana; Kater, Claudio Elias [UNIFESP] (Sociedade Brasileira de Endocrinologia e Metabologia, 2014-03-01)
      Due to major improvements in the management and therapy of patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (21OHD) along childhood and adolescence, affected women are able to reach adulthood. ...

    • Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency 

      Moreira, Ricardo P. P.; Jorge, Alexander A. L.; Gomes, Larissa G.; Kaupert, Laura C.; Massud Filho, João [UNIFESP]; Mendonca, Berenice B.; Bachega, Tania Aparecida Sartori Sanchez [UNIFESP] (Faculdade de Medicina / USP, 2011-01-01)
      INTRODUCTION: 21-hydroxylase deficiency is an autosomal recessive disorder that causes glucocorticoid deficiency and increased androgen production. Treatment is based on glucocorticoid replacement; however, interindividual ...