Conditions / Endocrine
cortisone reductase deficiency 2
info · Endocrine
A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of het
A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.
Signs and symptoms
- Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio
- Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio
- Insulin resistance
- Acanthosis nigricans
- Accelerated skeletal maturation
- Premature pubarche
- Obesity
Also known as: CORTRD2