[Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase deficiency].
Deficiency of 3beta-hydroxysteroid dehydrogenase belongs to less frequent types of congenital adrenal hyperplasia. It is a deficiency of the enzyme converting pregnenolon to progesteron, 17-OH-pregnenolon to 17-OH-progesteron and dehydroepiandrosteron to androstendion in the adrenal glands and gonads. Exact prevalence of forms with clinical symptoms is known; however, it is less frequent compared to deficiency of 21-hydroxylase. Clinical manifestation is very variable, from serious salt disorder, ambiguous genitalia and precocious puberty to oligosymptomatic forms with late effects or asymptomatic forms. No routine genetic analysis in Czech republic is available. Diagnosis can be suspected through increased levels of some steroid hormones in basal condition; the final determinent indicator is the concentration of steroid hormones after stimulation by adrenocorticotropic hormone.
Marunová
M
M
Endokrinologický ustav, Praha. mmarunova@endo.cz
D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000201:enzymology; D005260:Female; D006801:Humans
D015096:3-Hydroxysteroid Dehydrogenases