OnlineIMD

24.2    Disorders of steroid metabolism

  • Type
    Group
  • Disease group(s)
    • 24    Endocrine metabolic disorders
  • Child entries
    • Congenital adrenal hyperplasia
    • Pseudohypoaldosteronismus
    • Cholesterol side-chain cleavage enzyme deficiency
    • Methemoglobinemia type 4
    • 3-beta-hydroxysteroid dehydrogenase deficiency
    • 21-hydroxylase deficiency
    • CYP11B2-related disease
    • 11-beta-hydroxylase deficiency
    • 17-alpha hydroxylase/17,20-lyase deficiency
    • Cortisone reductase deficiency
    • Androgen receptor deficiency
    • Steroidogenic acute regulatory protein deficiency
    • Antley Bixler syndrome
    • Glucocorticoid receptor deficiency
    • NR3C2-related disease
    • Epithelial sodium channel 1 deficiency
    • Steroid-thyroid hormone receptor deficiency
    • ACTH receptor deficiency
    • Melanocortin-2 receptor accessory protein deficiency
    • Aromatase deficiency
    • Estrogen receptor deficiency
    • Estrogen receptor 2 deficiency
    • Progesterone receptor deficiency
    • 17-beta-hydroxysteroid dehydrogenase deficiency
    • 3-alpha-hydroxysteroid dehydrogenase type 3 deficiency
    • 11-beta-hydroxysteroid dehydrogenase type 2 deficiency
    • Steroid 5-alpha-reductase 2 deficiency
    • Hydroxysteroid sulfotransferase deficiency
    • Steroid sulfatase deficiency
    • CLCN2-related disease