[10] The incidence is higher in some populations; 3-beta–hydroxysteroid dehydrogenase deficiency is relatively common in the Old Order Amish in North America associated with a HSD3B2 c.35G, a founder mutation. [11] Patients with complete 3-beta–hydroxysteroid dehydrogenase deficiency are at risk for acute adrenal insufficiency when ill. Patients and their families should be instructed in the use of stress doses of glucocorticoids for acute illness (eg, temperature ≥101°F) or major trauma. If medication can be taken orally, the patient should double or triple the usual dose of glucocorticoid for 3 days. Mineralocorticoid doses do not need to be increased. If the patient cannot take the medication orally because of vomiting, altered state of consciousness, or surgery, parenteral glucocorticoids, preferably hydrocortisone, should be administered.
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Wikibooks: Biochemie und Pathobiochemie: Steroidhormon-Stoffwechsel – Lern- und Lehrmaterialien. All classes of steroid hormones are synthesized from the common precursor cholesterol. The synthesis of sex steroid hormones is carried out under the catalysis of a series of enzymes, and the genes encoding these enzymes include hsd3b1 , hsd11b2 , hsd17b1 , hsd17b3 , and hsd20b2 of the beta-hydroxysteroid dehydrogenases (β-HSDs) superfamily, and cyp11a1 , cyp11b , cyp17a1 , cyp19a1a , and cyp21a1 of the cytochrome P450 (cP450) superfamily (Tokarz et al., 2015). Hsd3b1 is responsible for the oxidation and isomerization of Δ5-3β-hydroxysteroid precursors in order to form Δ4-3-ketosteroid (Nakamoto et al., 2012). Hsd11b2 catalyzes the conversion of cortisol to cortisone (Fuller et al., 2012), and also plays a crucial role in the conversion of 11β-OH-androstenedione to 11-ketotestosterone (11-KT) (Tokarz et al., 2015), which affects the production of the most important androgen in teleost fish. Furthermore Hsd17b1 converts inactive estrone to active estradiol (Mindnich et al., 2004), Hsd17b3 is an essential enzyme for the synthesis of 11-KT (Mindnich et al., 2005) and Hsd20b2 converts 17alpha-hydroxyprogesterone to 17alpha,20beta-DP, which has been identified as the maturation-inducing hormone of several teleosts (Senthilkumaran et al., 2002). Genome-Wide Identification of β -hsd Genes. Gene Expression Profiling by Quantitative Real-Time PCR (qRT-PCR) The exon-intron structure of the grouper β -hsd genes was further characterized, and showed that the number of introns in each β -hsd gene varied from 2–16 (Figure 2B). Xadrez online apostado.
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