Navegando por Palavras-chave "Deficiência de 21-hidroxilase"

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    Desenvolvimento de um radioimunoensaio para 21-deoxicortisol sérico e sua potencial aplicação no diagnóstico da hiperplasia adrenal congênita
    (Sociedade Brasileira de Endocrinologia e Metabologia, 2003-04-01) Tonetto-Fernandes, Vânia [UNIFESP]; Ribeiro-Neto, Luciane M. [UNIFESP]; Verreschi, Ieda Therezinha do Nascimento [UNIFESP]; Fiet, Jean; Vieira, José Gilberto H. [UNIFESP]; Kater, Claudio Elias [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Hospital Infantil Darcy Vargas Serviço de Endocrinologia Pediátrica; Hôpital Saint Louis Service de Biologie Hormonale
    Serum 21-deoxycortisol (21DF) has been considered a useful hormonal marker for the diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). Although several radioimmunoassay (RIA) methods for 21DF have been reported, none are commercially available. We developed a RIA adapted for 21DF determination, preceded by ether-extraction and liquid chromatographic separation (HPLC) of samples. The assay was employed to evaluate children (15F/10M) with the classic form of 21OHD and a control group (5F/8M). The antibody obtained, in addition to efficient HPLC separation, permitted tritiated cortisol instead of 21DF to be used, since labeled ³H-21DF is expensive and difficult to obtain. Serum cortisol levels were reduced in patients with 21OHD (48h following therapy withdrawal) as compared to controls (2.1±2.1 vs. 16.2±7.0mug/dl), whereas serum levels of 21DF were significantly elevated (1,359±853ng/dl, ranging from 434 to 3,079) in the former, but consistently below the sensitivity limit of the assay (156ng/dl) in the latter group. The reported method, although devoid of sensitivity for its application in normal subjects, permits 21DF to be quantified in patients with 21OHD, with adequate sensitivity and specificity to diagnose and follow patients with this condition.
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    Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening
    (Sociedade Brasileira de Endocrinologia e Metabologia, 2008-11-01) 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; Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP)
    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 the fact that healthy preterm infants have high levels of 17-OHP resulting in false positive cases. We report on molecular features of a boy born pre-term (GA = 30 weeks; weight = 1,390 g) with elevated levels of 17-OHP (91.2 nmol/L, normal < 40) upon neonatal screening who was treated as having CAH up to the age of 8 months. He was brought to us for molecular diagnosis. Medication was gradually suspended and serum 17-OHP dosages mantained normal. The p.V281L mutation was found in compound heterozygous status with a group of nucleotide alterations located at the 3' end intron 4 and 5' end exon 5 corresponding to the splice site acceptor region. Molecular studies continued in order to exclude the possibility of a nonclassical 21-OHD form. The group of three nucleotide changes was demonstrated to be a normal variant since they failed to interfere with the normal splicing process upon minigene studies.
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    Hiperplasia adrenal congênita em mulheres adultas: manejo de antigos e novos desafios
    (Sociedade Brasileira de Endocrinologia e Metabologia, 2014-03-01) Costa-Barbosa, Flávia A.; Telles-Silveira, Mariana; Kater, Claudio Elias [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    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. Therefore, management throughout adult life became even more complex, leading to new challenges. Both the protracted use of corticosteroids (sometimes in supraphysiologic doses), and excess androgen (due to irregular treatment and/or inadequate dosage) may impair the quality of life and health outcomes in affected adult women, causing osteoporosis, metabolic disturbances with high cardiovascular risk, cosmetic damage, infertility, and psychosocial and psychosexual changes. However, long-term follow-up studies with 21OHD adult women are still required. In this review, we discuss some important and controversial aspects of the follow-up of adult women with 21OHD, and recommend the use of a customized multi-disciplinary therapeutic approach while further studies with these patients do not provide distinct understanding and well-defined attitudes towards better quality of life.