Vnitr Lek 2006, 52(10):957-962
Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
- Endokrinologický ústav, Praha, ředitel doc. MUDr. Vojtěch Hainer, CSc.
Deficiency of 3β-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.
Keywords: 3β-hydroxysteroid dehydrogenase; hypogonadism; congenital adrenal hyperplasia; cortisol
Received: June 26, 2006; Published: October 1, 2006 Show citation
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