Pasic, G.J. Jager, C.G. Sweep, K. Noordam, A.R. Hermus, High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. J.
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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. ACTH stimulation test shows, apart from diminished cortisol, an exaggerated response and high level of Δ5-17-hydroxypregnenolone in patients with homozygous/compound heterozygous HSD3B2 mutations and varies according to patient age (Table 1) [13, 46]. Nordeste futebol.net aposta rodada de hoje.
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