Also, there seems to be an underrepresentation of 46,XX patients, which might be explained by lack of diagnosis in milder form of 3βHSD2D in females. Also, females with severe form may die undiagnosed in a neonatal adrenal crisis more often than males [15]. As 3βHSD2D catalyzes the conversion of Δ5-steroids (pregnenolone, 17-hydroxypregnenolone, DHEA, androstenediol) to Δ4-steroids (progesteron, 17OHP, androstenedione, testosterone), the main hormonal changes observed in patients with 3βHSD2D are high ratios of the Δ5- over Δ4-steroids [24, 43]. This includes raised 17-hydroxypregnenolone to 17OHP and DHEA(S) to androstenedione ratios in serum, and pregnanetriol to pregnanediol ratio in urine [15, 44, 45]. Morning administration of 250 μg of synthetic ACTH followed by measurements of plasma Δ5-17-hydroxypregnenolone (5–17P), cortisol, Δ4-17-hydroxyprogesterone (17OHP), DHEA(S), and androstenedione can be used to improve the diagnostic process of 3βHSD2D [3, 13]. Hormonal criteria for the diagnosis of 3βHSD2D have been developed from a previous study [13], where hormonal profiles of patients with homozygous/compound heterogeneous HSD3B2 mutations and people with normal HSD3B2 genes were compared.
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A) Somente a I é verdadeira. E) Somente a III é falsa. Durabilidade (em meses) B) A duração mais frequente foi de 18 a 24 meses. Questão 5. Analisando a tabela, a moda das idades é: Rotina juvenil. Atividades de lazer. Questão 7. B) A frequência absoluta da altura de 1,55 é 4. Probabilidade aposta esportiva.
Nat. Genet. Yang, S. Y., He, X. Y., and Schulz, H. (2005). 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. FEBS J.
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