ABSTRACT
Resumen: la hiperplasia adrenal congénita corresponde a un grupo de enfermedades heredadas con defectos enzimáticos que pueden comprometer la biosíntesis del cortisol. La deficiencia de la enzima 3β-hidroxiesteroide deshidrogenasa tipo 2 es una causa rara de este defecto en la que el desarrollo genital masculino se encuentra alterado y presenta una virilización leve en las mujeres afectadas. En humanos se han descrito dos isoenzimas, la tipo I y la tipo II, codificadas por los genes HSD3B1 y HSD3B2, respectivamente, con una distribución tisular específica.Los programas de tamización de la hiperplasia adrenal congénita reportan elevación paradójica de la 17-hidroxiprogesterona secundaria al efecto periférico de la 3β-hidroxiesteroide deshidrogenasa tipo 1, isoenzima de la 3β-hidroxiesteroide deshidrogenasa tipo 2, que tiene una constante de Michaelis menor con el sustrato.A pesar de la baja prevalencia el estudio de este defecto ha tenido importantes avances en cuanto a la información molecular y el diagnóstico hormonal, datos que han sido respaldados por la identificación de la alteración genética y han disminuido la posibilidad del sobrediagnóstico; evento que se estaba presentado frecuentemente con los puntos de cortes establecidos inicialmente para el diagnósticode la enfermedad, sobre todo en sus formas leves.
Abstract: the congenital adrenal hyperplasia corresponds to a group of inherited diseases with enzyme defects that alter the cortisol biosynthesis. The 3β-hydroxysteroid dehydrogenase type 2 deficiency is a rare cause of this defect, where the male genital development is altered but little virilization in affected women is present. In humans two isoenzymes have been described, type I and type II, coded by HSD3B2 and HSD3B1 genes, respectively, and with specific tissuedistribution. The screening programs to congenital adrenal hyperplasia report paradoxical elevation of 17-hydroxyprogesterone secondary to peripheral effect of 3β-hydroxysteroid dehydrogenase type 1, an isoenzyme of 3β-hydroxysteroid dehydrogenase type 2. Type 1 has a lower Michaelis constant with the substrate; additional condition that relates with the paradoxical effect of the 17-hydroxyprogesterone.Besides the low prevalence, the study of this defect has had important progress about molecular information and hormonal diagnosis, data that has been confirmed with the identification of genetic alteration in the described gene, reducing the possibility of overdiagnosis; an event that was showing frequently with the initially cut-point stablished especially for milder forms of the disease.
Subject(s)
Humans , Adrenal Hyperplasia, Congenital , HydrocortisoneABSTRACT
Objective To observe the therapeutic effect of Bushen huoxue huatan recipe (BHHR) on androgen-induced sterilized rats (ASR) and the expression of androgen synthase and metabolic enzymes in the ovary of ASR before and after treatment with BHHR, and to discuss the possible mechanism. Methods Female SD rats of 9-day old were injected subcutaneously with testosterone propionate (1. 25 mg) to create model. The model ratswere randomly divided into 3 groups: model group (treated with distilled water by gastrogavage, 10 mL/kg)' metformin therapy group (gastrogavage, 0. 1 g/kg) and BHHR therapy group (gastrogavage, 10 mL/kg)' with 13 animals in each group. Ten rats with normal estrous cycle served as normal controls. The body mass' sexual cycle recovery and ovary mass/body mass ratio were observed after 28-day treatment. Serum testosterone level was measured by radioimmunoassay; the expressions of 3(-hydroxylsteroid dehyrogenase (3β-HSD) cytochrome P450 17α-crhydroxylase/17, 20-lyase (CYP17) and P450 aromatase (P450arom) in ovary were detected by quantitative immunohistochemistry method. Results (1) Significantly more rats in the metformin and BHHR groups had sexual cycle recovery compared with that in themodtl group (P 0. 05). Conclusion BHHR can reduce serum testosterone levels in ASR rat, which might be through up-regulating the expression of the androgen metabolism enzyme P450arom.