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

More general terms

• adrenal gland disease
• lipid metabolism, inborn error; lipid storage disease; lipidosis

Additional terms

• 3-beta hydroxysteroid dehydrogenase