Congenital adrenal hyperplasia due to 3-β-hydroxysteroid dehydrogenase deficiency

Czech version

Authors: M. Marunová
Authors‘ workplace: Endokrinologický ústav, Praha, ředitel doc. MUDr. Vojtěch Hainer, CSc.
Published in: Vnitř Lék 2006; 52(10): 957-962
Category: Review

Overview

Deficiency of 3-ß-hydroxysteroid dehydrogenasis belongs to less frequent types of congenital adrenal hyperplasia. It is a deficiency of the enzyme which function is to change pregnenolon to progesteron, 17-OH-pregnenolon to 17-OH-progesteron and dehydroepiandrosteron to androstendion in the adrenal glands and gonads. No prevalence of forms with clinical symptoms is known; however, it is less frequent compared to deficiency of 21-hydroxylase. Clinical manifestations are 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 conducted. 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.

Key words:
3-β-hydroxysteroid dehydrogenase – hypogonadism – congenital adrenal hyperplasia – cortisol

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