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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 ...

Adrenal steroids synthesis during acute infectious diseases in infants

Longui, C. A.; Zlochevsky, ERM; Bachega, Tania Aparecida Sartori Sanchez [UNIFESP]; Monte, O. (Freund Publishing House Ltd, 2002-11-01)

An increase in plasma 17OHP found in infants requiring differential diagnosis between septic shock and adrenal failure led us to look for adrenal steroids pattern during infection. Infants and Methods: 56 infants, 1-6 ...

Reproductive cycle, ovarian development, and vertebrate-type steroids profile in the freshwater prawn Macrobrachium rosenbergii

University of Trás-os-Montes e Alto Douro; Universidade Estadual Paulista (Unesp); CECAV-University of Trás os Montes e Alto Douro; University of Porto (2007-05-01)

This study is intended to characterize the ovarian development and hemolymph vertebrate-type steroids concentration during the reproductive cycle of the freshwater prawn, Macrobrachium rosenbergii. A five-stage classification ...

Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency

Costa-Barbosa, Flavia A. [UNIFESP]; Tonetto-Fernandes, Vania F. [UNIFESP]; Carvalho, Valdemir M.; Nakamura, Odete H.; Moura, Vivian; Bachega, Tania Aparecida Sartori Sanchez [UNIFESP]; Vieira, Jose G. H. [UNIFESP]; Kater, Claudio E. [UNIFESP] (Wiley-Blackwell, 2010-12-01)

P>BackgroundCongenital adrenal hyperplasia caused by classic 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder with a high prevalence of asymptomatic heterozygote carriers (HTZ) in the general population, ...

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 ...

Dynamics of ovarian maturation during the reproductive cycle of Metynnis maculatus, a reservoir invasive fish species (Teleostei: Characiformes)

Pereira, Thiago Scremin Boscolo; Moreira, Renata Guimaraes; Batlouni, Sergio Ricardo (Sociedade Brasileira de Ictiologia, 2014)