[Kinetics of the testicular steroidogenic response to stimulation by placental gonadotropin hormone. VI. Enzyme deficiencies of testicular biosynthesis].
The kinetics of the responses of plasma testosterone (T) its precursors and estrogens to a single injection of human chorionic gonadotropin (hCG) was studied in 9 46 XY subjects affected with one of 4 inborn errors of testicular biosynthesis. In the adults (n = 4), the kinetics and profile of the hormonal responses to hCG were qualitatively comparable to those previously described in normal adult men, and the profile of response characteristic of the hCG-induced steroidogenic desensitization was observed, suggesting that the 17,20 desmolase blockade induced by hCG is superimposed to the inborn enzymatic defect. In the prepubertal patients (n = 5), testicular desensitization was not observed, as in prepubertal controls. However, T precursors, each marker of a given enzymatic blockade, significantly rose several fold 2-5 days after the hCG injection, while they do not in normal children. The results also show that an hCG test is necessary for a clear-cut diagnosis of a given enzymatic block in children, but is not in adults. The single hCG injection protocol used in this study offers a sophisticated way of a qualitative analysis of the testicular secretory products, but is not a must.
D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency; D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital; D000328:Adult; D000446:Aldehyde-Lyases / Q000172:deficiency; D000523:Algestone / Q000097:blood; D000735:Androstenedione / Q000097:blood; D002648:Child; D002675:Child, Preschool; D006063:Chorionic Gonadotropin / Q000494:pharmacology*; D013196:Dihydrotestosterone / Q000097:blood; D004958:Estradiol / Q000097:blood; D004970:Estrone / Q000097:blood; D006801:Humans; D007223:Infant; D007700:Kinetics; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency; D013737:Testis / Q000201:enzymology / Q000378:metabolism*; D013739:Testosterone / Q000097:blood / Q000378:metabolism
D006063:Chorionic Gonadotropin; D013196:Dihydrotestosterone; D004970:Estrone; D000523:Algestone; D013739:Testosterone; D000735:Androstenedione; D004958:Estradiol; D010088:Oxidoreductases; D015067:17-Hydroxysteroid Dehydrogenases; D015096:3-Hydroxysteroid Dehydrogenases; D000446:Aldehyde-Lyases
Cinétique de la réponse stéroïdogénique testiculaire à la stimulation par l'hormone gonadotrophique placentaire. VI. Déficits enzymatiques de la biosynthèse testiculaire.