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3-beta-hydroxysteroid dehydrogenase deficiency
Epidemiology:
- rare
Pathology:
- deficiency of 3-beta-hydroxysteroid dehydrogenase
- decreased production of all 3 groups of adrenal steroids, mineralocorticoids, glucocorticoids, & gonadal steroids
Clinical manifestations:
- ambiguous genitalia
- signs of adrenal insufficiency
- circulatory shock
Laboratory:
- serum sodium: hyponatremia
- serum potassium: hypokalemia
- serum pregnenolone is elevated
- serum 17-hydroxypregnenolone is elevated
- serum DHEA is elevated
- serum ACTH is elevated
Related
3-beta hydroxysteroid dehydrogenase
General
adrenal gland disease
lipid metabolism, inborn error; lipid storage disease; lipidosis
References
- Frindik JP
eMedicine (Medscape)
3-Beta-Hydroxysteroid Dehydrogenase Deficiency
http://emedicine.medscape.com/article/920621-overview